Purpose: Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/β-catenin signaling. Various therapeutic options, including imatinib, are available to treat desmoid tumor. However, the molecular mechanism of why imatinib works remains unclear. Here, we describe potential roles of NOTCH2 and HES1 in clinical response to imatinib at genome and transcriptome levels. Materials and Methods: We identified somatic mutations in coding and noncoding regions via whole-genome sequencing. To validate the genetic interaction with expression level in desmoid-tumor condition, we utilized large-scale whole-genome sequencing and transcriptome datasets from the Pan-Cancer Analysis of Whole Genomes project. RNA-sequencing was performed using prospective and retrospective cohort samples to evaluate the expressional relevance with clinical response. Results: Among 20 patients, four (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for ≥ 1 year. With gene-wise functional analyses, we detected a significant correlation between recurrent NOTCH2 noncoding mutations and clinical response to imatinib. Based on Pan-Cancer Analysis of Whole Genomes data analyses, NOTCH2 mutations affect expression levels particularly in the presence of CTNNB1 missense mutations. By analyzing RNA-sequencing with additional desmoid tumor samples, we found that NOTCH2 expression was significantly correlated with HES1 expression. Interestingly, NOTCH2 had no statistical power to discriminate between responders and non-responders. Instead, HES1 was differentially expressed with statistical significance between responders and non-responders. Conclusion Imatinib was effective and well tolerated for advanced desmoid tumor treatment. Our results show that HES1, regulated by NOTCH2, as an indicator of sensitivity to imatinib, and an important therapeutic consideration for desmoid tumor.

Objectives: Social function deficit is known as a core feature of schizophrenia. This study aimed to investigate differences in empathic tendencies and theory of mind (ToM) skills between healthy controls and young individuals with schizophrenia, and to examine the associations between empathic tendencies, ToM skills and schizotypy, and executive function in schizophrenia. Methods: Thirty patients with schizophrenia and 30 healthy controls were enrolled and assessed using the interpersonal relationship index (IRI; perspective taking, fantasy, empathic concern, and personal distress subscales), ToM-Picture Story Task (ToM-PST; sequence and cognitive questionnaire), Wisconsin schizotypy scale (revised physical anhedonia and perceptual aberration), and Stroop tests for empathic tendencies, ToM skills, schizotypy, and executive function. Results: In individuals with schizophrenia, the IRI for perspective taking and ToM-PST score for cognitive function were lower, and the IRI for personal distress was higher than those in healthy controls. The IRIs for perspective taking and fantasy were related to revised physical anhedonia, and that for empathic concern was associated with revised physical anhedonia and perceptual aberration. The ToM-PST score for sequence was associated with the Stroop test score for schizophrenia. Conclusion These findings indicate deficits in empathic tendencies and ToM skills, which may be independently and primarily associated with schizotypy and executive function in young individuals with schizophrenia.

Objective: The Reading the Mind in the Eyes Test (RMET) was developed by using Caucasian eyes, which may not be appropriate to be used in Korean. The aims of the present study were 1) to develop a Korean version of the RMET (K-RMET) by using Korean eye stimuli and 2) to examine the psychometric properties of the Korean-translated version of the RMET and the K-RMET. Methods: Thirty-six photographs of Korean eyes were selected. A total of 196 (101 females) healthy subjects were asked to take the Korean-translated version of the RMET and K-RMET. To assess internal consistency reliability, Cronbach’s alpha coefficients were computed, and test–retest reliability was assessed by the intraclass correlation coefficient (ICC) and Bland-Altman plots. Confirmatory factor analysis (CFA) and item analysis were also conducted. Results: Internal consistency, measured by Cronbach’s alpha, was 0.542 for the Korean-translated version of the RMET, and 0.540 for the K-RMET. Test–retest reliability (n=25), measured by the ICC, was 0.787 for the Korean-translated version of the RMET, and 0.758 for the K-RMET. In CFA, the assumed single and 3-factor model fit indices were not good in the both types of RMETs. There was difficulty in discrimination in nine items of the Korean-translated version of the RMET and 10 items of the K-RMET. Conclusion The psychometric properties of both the Korean-translated version of the RMET and the K-RMET are acceptable. Both tests are applicable to the clinical population, as well as the general population in Korea.

Objectives: Social function deficit is known as a core feature of schizophrenia. This study aimed to investigate differences in empathic tendencies and theory of mind (ToM) skills between healthy controls and young individuals with schizophrenia, and to examine the associations between empathic tendencies, ToM skills and schizotypy, and executive function in schizophrenia. Methods: Thirty patients with schizophrenia and 30 healthy controls were enrolled and assessed using the interpersonal relationship index (IRI; perspective taking, fantasy, empathic concern, and personal distress subscales), ToM-Picture Story Task (ToM-PST; sequence and cognitive questionnaire), Wisconsin schizotypy scale (revised physical anhedonia and perceptual aberration), and Stroop tests for empathic tendencies, ToM skills, schizotypy, and executive function. Results: In individuals with schizophrenia, the IRI for perspective taking and ToM-PST score for cognitive function were lower, and the IRI for personal distress was higher than those in healthy controls. The IRIs for perspective taking and fantasy were related to revised physical anhedonia, and that for empathic concern was associated with revised physical anhedonia and perceptual aberration. The ToM-PST score for sequence was associated with the Stroop test score for schizophrenia. Conclusion These findings indicate deficits in empathic tendencies and ToM skills, which may be independently and primarily associated with schizotypy and executive function in young individuals with schizophrenia.

Objective: The Reading the Mind in the Eyes Test (RMET) was developed by using Caucasian eyes, which may not be appropriate to be used in Korean. The aims of the present study were 1) to develop a Korean version of the RMET (K-RMET) by using Korean eye stimuli and 2) to examine the psychometric properties of the Korean-translated version of the RMET and the K-RMET. Methods: Thirty-six photographs of Korean eyes were selected. A total of 196 (101 females) healthy subjects were asked to take the Korean-translated version of the RMET and K-RMET. To assess internal consistency reliability, Cronbach’s alpha coefficients were computed, and test–retest reliability was assessed by the intraclass correlation coefficient (ICC) and Bland-Altman plots. Confirmatory factor analysis (CFA) and item analysis were also conducted. Results: Internal consistency, measured by Cronbach’s alpha, was 0.542 for the Korean-translated version of the RMET, and 0.540 for the K-RMET. Test–retest reliability (n=25), measured by the ICC, was 0.787 for the Korean-translated version of the RMET, and 0.758 for the K-RMET. In CFA, the assumed single and 3-factor model fit indices were not good in the both types of RMETs. There was difficulty in discrimination in nine items of the Korean-translated version of the RMET and 10 items of the K-RMET. Conclusion The psychometric properties of both the Korean-translated version of the RMET and the K-RMET are acceptable. Both tests are applicable to the clinical population, as well as the general population in Korea.

Objective: While recent studies have found deficits in theory of mind (ToM) skills in individuals at ultra-high risk (UHR) for psychosis, empathic tendencies in these subjects remain unclear. The presence of high schizotypy and compromised executive functions, which are found in UHR individuals, would affect ToM skills and empathic tendencies. We investigated the ToM skills and empathic tendencies of UHR individuals and examined their relationship with schizotypy and executive function. Methods: This study included 28 UHR individuals and 28 age- and sex-matched healthy controls. All participants completed a self-reported empathic scale (Interpersonal Reactivity Index) and the Wisconsin Schizotypy Scales. Additionally, the ToM Picture Stories Task and Wisconsin Card Sorting Test were conducted. Results: UHR individuals showed a trend toward lower self-reported empathic tendencies; however, there were no differences in ToM skills between the two groups. Of the four subscales of the IRI, only empathic concern showed a significant difference between the two groups. Empathic concern was inversely associated with negative schizotypy. Conclusion Our findings suggest that UHR individuals show relatively preserved cognitive empathy but compromised emotional empathy. Furthermore, in UHR individuals, the empathic concern subscale of the IRI was associated with negative schizotypy, while ToM skills were related to positive schizotypy and executive function.

Objective: The Reading the Mind in the Eyes Test (RMET) is a common measure of the Theory of Mind. Previous studies found a correlation between RMET performance and neurocognition, especially reasoning by analogy; however, the nature of this relationship remains unclear. Additionally, neurocognition was shown to play a significant role in facial emotion recognition. This study is planned to examine the nature of relationship between neurocognition and RMET performance, as well as the mediating role of facial emotion recognition. Methods: One hundred fifty non-clinical youths performed the RMET. Reasoning by analogy was tested by Raven’s Standard Progressive Matrices (SPM) and facial emotion recognition was assessed by the Korean Facial Expressions of Emotion (KOFEE) test. The percentile bootstrap method was used to calculate the parameters of the mediating effects of facial emotion recognition on the relationship between SPM and RMET scores. Results: SPM scores and KOFEE scores were both statistically significant predictors of RMET scores. KOFEE scores were found to partially mediate the impact of SPM scores on RMET scores. Conclusion These findings suggested that facial emotion recognition partially mediated the relationship between reasoning by analogy and social cognition. This study highlights the need for further research for individuals with serious mental illnesses.

An extra-ovarian teratoma has been reported in a few cases of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. A 25-year-old woman presented with psychiatric symptoms. We did not find an ovarian teratoma on initial examination, and her initial simple chest X-ray was normal. We incidentally found an abnormality on follow-up simple chest X-ray and diagnosed an anterior mediastinal teratoma. Therefore, in patients with suspected anti-NMDAR encephalitis, even if simple chest X-ray is normal, chest computed tomography should be performed to investigate a hidden teratoma.
Adult ; Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Encephalitis ; Female ; Follow-Up Studies ; Humans ; Teratoma ; Thorax

Pancreatic pseudocyst is a common complication of acute pancreatitis. Pseudocysts are commonly observed in the lesser sac and retroperitoneum; they are rarely seen in the liver. Herein, we report a case of intrahepatic pseudocyst, complicated by asymptomatic groove pancreatitis, that has successfully been treated with hepatic resection. A 70-year-old woman was referred to our hospital with severe upper abdominal pain. Abdominal computed tomography scan showed 11×10 cm sized cystic lesion in the left lateral section of the liver. Appearance of the pancreas was relatively normal. Endoscopic aspiration revealed a high level of amylase in the cystic fluid. After endoscopy, signs of peritonitis were observed; then, a left hemihepatectomy was performed. Pathologic examination revealed an intrahepatic pancreatic pseudocyst. The presence of intrahepatic cystic lesion in patients with suspected pancreatitis should raise the suspicion of intrahepatic pseudocyst. Intrahepatic pancreatic pseudocysts may be the only clinical manifestation even without an episode of acute pancreatitis.
Abdominal Pain ; Aged ; Amylases ; Endoscopy ; Female ; Hepatectomy ; Humans ; Liver ; Pancreas ; Pancreatic Pseudocyst* ; Pancreatitis* ; Peritoneal Cavity ; Peritonitis

OBJECTIVE: We designed a nationwide study with limited exclusion criteria to investigate the prevalence of metabolic syndrome (MetS) in Korea and its relationship with antipsychotic medications. METHODS: This multicenter, cross-sectional, and observational study included patients diagnosed with schizophrenia or schizoaffective disorder. Sixteen hospitals enrolled 845 patients aged 18 to 65 years prescribed any antipsychotic medication between August 2011 and August 2013. MetS was diagnosed using the criteria of the modified Adult Treatment Panel III of the National Cholesterol Education Program with the Korean abdominal obesity definition (waist circumference ≥85 cm in women, ≥90 cm in men). RESULTS: The prevalence of MetS in all patients was 36.5% and was significantly higher in men than women (men, 40.8%; women, 32.2%) and was significantly correlated with age [odds ratio (OR) 1.02] and duration of illness (OR 1.03). The prevalence of MetS across antipsychotic drugs in the major monotherapy group was as follows: 18.8% for quetiapine, 22.0% for aripiprazole, 33.3% for both amisulpride and paliperidone, 34.0% for olanzapine, 35% for risperidone, 39.4% for haloperidol, and 44.7% for clozapine. CONCLUSION: The prevalence of MetS is very high in patients with schizophrenia or schizoaffective disorder. Screening and monitoring of MetS is also strongly recommended.
Adult ; Antipsychotic Agents ; Aripiprazole ; Cholesterol ; Clozapine ; Cross-Sectional Studies* ; Education ; Female ; Haloperidol ; Humans ; Korea* ; Male ; Mass Screening ; Obesity, Abdominal ; Observational Study ; Paliperidone Palmitate ; Prevalence* ; Psychotic Disorders ; Quetiapine Fumarate ; Risperidone ; Schizophrenia*