One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis. Runt-related transcription factor 1 (RUNX1) binds to its heterodimeric partner, core binding factor beta (CBFβ), and forms a core binding factor that regulates the expression of various target genes. The association between RUNX1 germline mutations and familial platelet disorder with associated myeloid malignancy was first reported in 1999. Although this disease has various phenotypes and penetration, the most common symptom is a bleeding tendency due to thrombocytopenia and platelet dysfunction. Myelodysplastic syndromes or acute myeloid leukemia may also develop in 35-40% of cases. We identified a heterozygous mutation in the RUNX1 gene using diagnostic exome sequencing in an adolescent with chronic thrombocytopenia.The patient will be followed continuously for hematologic malignancies that may develop in the future. This case illustrates the importance of diagnosing inherited thrombocytopenia to provide adequate follow-up for hematologic malignancies and reduce unnecessary treatment.

OBJECTIVES: The objective of this study was to develop evidence- and consensus-based clinical safety usage guidelines for sedative hypnotics using the Delphi technique. METHODS: A group of 15 sleep experts from Korean Academy of Sleep Medicine were chosen for this study comprising a three-round web-based Delphi survey. The first round survey was composed of 39 questions to identify problems with sedative hypnotics usage in Korean clinical practice and the result roughly outlined what should be included in the guidelines. The second round survey was composed of 21 questions to collect specific opinions of experts on clinically important issues in prescribing sedative hypnotics, and its result provided the basis for the guidelines. A third round survey aimed to evaluate the reliability and validity of the established guidelines. RESULTS: In the third round, all 17 items showed a median of 4 or more, with an average of 4.12 and a standard deviation of 0.32. Thus we present safety usage guidelines with 13 propositions for prescription, maintenance, and withdrawal of sedative hypnotics. CONCLUSION The safety usage guidelines on sedative hypnotics developed from this study could lead to safe and effective prescription of hypnotics in clinical practice, especially for the non-experts in sleep medicine. Furthermore, the guidelines will help to improve the quality of insomnia treatment by contributing to the establishment of a safe regime for sedative hypnotics without excessive use of drugs.

No abstract available.
Leukoencephalopathies ; Methotrexate ; Stroke

Objective: To evaluate the impact of surgical simulation training using a three-dimensional (3D)-printed model of tetralogy of Fallot (TOF) on surgical skill development. Materials and Methods: A life-size congenital heart disease model was printed using a Stratasys Object500 Connex2 printer from preoperative electrocardiography-gated CT scans of a 6-month-old patient with TOF with complex pulmonary stenosis.Eleven cardiothoracic surgeons independently evaluated the suitability of four 3D-printed models using composite Tango 27, 40, 50, and 60 in terms of palpation, resistance, extensibility, gap, cut-through ability, and reusability of. Among these, Tango 27 was selected as the final model. Six attendees (two junior cardiothoracic surgery residents, two senior residents, and two clinical fellows) independently performed simulation surgeries three times each. Surgical proficiency was evaluated by an experienced cardiothoracic surgeon on a 1–10 scale for each of the 10 surgical procedures. The times required for each surgical procedure were also measured. Results: In the simulation surgeries, six surgeons required a median of 34.4 (range 32.5–43.5) and 21.4 (17.9–192.7) minutes to apply the ventricular septal defect (VSD) and right ventricular outflow tract (RVOT) patches, respectively, on their first simulation surgery. These times had significantly reduced to 17.3 (16.2–29.5) and 13.6 (10.3–30.0) minutes, respectively, in the third simulation surgery (p = 0.03 and p = 0.01, respectively). The decreases in the median patch appliance time among the six surgeons were 16.2 (range 13.6–17.7) and 8.0 (1.8–170.3) minutes for the VSD and RVOT patches, respectively. Summing the scores for the 10 procedures showed that the attendees scored an average of 28.58 ± 7.89 points on the first simulation surgery and improved their average score to 67.33 ± 15.10 on the third simulation surgery (p = 0.008). Conclusion Inexperienced cardiothoracic surgeons improved their performance in terms of surgical proficiency and operation time during the experience of three simulation surgeries using a 3D-printed TOF model using Tango 27 composite.

Objective: To evaluate the impact of surgical simulation training using a three-dimensional (3D)-printed model of tetralogy of Fallot (TOF) on surgical skill development. Materials and Methods: A life-size congenital heart disease model was printed using a Stratasys Object500 Connex2 printer from preoperative electrocardiography-gated CT scans of a 6-month-old patient with TOF with complex pulmonary stenosis.Eleven cardiothoracic surgeons independently evaluated the suitability of four 3D-printed models using composite Tango 27, 40, 50, and 60 in terms of palpation, resistance, extensibility, gap, cut-through ability, and reusability of. Among these, Tango 27 was selected as the final model. Six attendees (two junior cardiothoracic surgery residents, two senior residents, and two clinical fellows) independently performed simulation surgeries three times each. Surgical proficiency was evaluated by an experienced cardiothoracic surgeon on a 1–10 scale for each of the 10 surgical procedures. The times required for each surgical procedure were also measured. Results: In the simulation surgeries, six surgeons required a median of 34.4 (range 32.5–43.5) and 21.4 (17.9–192.7) minutes to apply the ventricular septal defect (VSD) and right ventricular outflow tract (RVOT) patches, respectively, on their first simulation surgery. These times had significantly reduced to 17.3 (16.2–29.5) and 13.6 (10.3–30.0) minutes, respectively, in the third simulation surgery (p = 0.03 and p = 0.01, respectively). The decreases in the median patch appliance time among the six surgeons were 16.2 (range 13.6–17.7) and 8.0 (1.8–170.3) minutes for the VSD and RVOT patches, respectively. Summing the scores for the 10 procedures showed that the attendees scored an average of 28.58 ± 7.89 points on the first simulation surgery and improved their average score to 67.33 ± 15.10 on the third simulation surgery (p = 0.008). Conclusion Inexperienced cardiothoracic surgeons improved their performance in terms of surgical proficiency and operation time during the experience of three simulation surgeries using a 3D-printed TOF model using Tango 27 composite.

Background: Although menopause is considered a risk factor for depression, no association has been established between the risk of suicidal ideation and age at menopause. This study aimed to evaluate the association between age at menopause and suicidal ideation in middleaged menopausal Korean women. Methods: This cross-sectional study used data from the Korea National Health and Nutrition Examination Survey (2013–2018). Women aged 40–65 years were divided into the following three categories: primary ovarian insufficiency (POI), early menopause, and menopause, according to age at natural menopause (< 40, 40–45, and > 45 years, respectively). Depressive symptoms were assessed using the Patient Health Questionnaire-9 (PHQ-9). Results: Among 2,232 menopausal women, 25 (1.1%) experienced POI and 114 (5.1%) experienced early menopause. The PHQ-9 items that pertained to low self-esteem and suicidal ideation scored higher in women with POI than in those who experienced menopause after 45 years of age. The prevalence of suicidal ideation differed significantly according to age at menopause (POI, 30.0%; early menopause, 12.7%; menopause, 8.0%; P = 0.016). Logistic regression analysis revealed that POI was significantly associated with suicidal ideation after the adjustment for age, body mass index, and education, household income, and walking levels (odds ratio, 4.2; 95% confidence interval, 1.0–17.7). Conclusion Korean middle-aged women with POI were more likely to have suicidal ideation than those who experienced menopause at 45 years or above, despite not being diagnosed with major depressive disorder.

Objective: Contact frequency with adult children plays a critical role in late-life depression. However, evidence on possible moderators of this association remains limited. Moreover, considering alterations in contact modes after the coronavirus disease-2019 pandemic, there is a need to investigate this association post-pandemic to develop effective therapeutic interventions. Methods: This study included 7,573 older adults who completed the Living Profiles of the Older People Survey in Korea. Participants’ contact frequency and depressive symptoms were analyzed. Regression analysis was performed after adjusting for covariates. The moderating effects of variables were verified using a process macro. Results: Multivariable logistic regression analysis revealed that infrequent face-to-face (odd ratio [OR]=1.86, 95% confidence interval [CI]=1.55–2.22) and non-face-to-face contact (OR=1.23, 95% CI=1.04–1.45) in the non-cohabitating adult children group was associated with a higher risk of late-life depression compared to that in the frequent contact group. Linear regression analysis indicated consistent results for face-to-face and non-face-to-face contact (estimate=0.458, standard error [SE]=0.090, p<0.001 and estimate=0.236, SE= 0.074, p=0.001, respectively). Moderation analysis revealed that the association between late-life depression and frequency of face-toface contact was moderated by age, household income quartiles, number of chronic diseases, physical activity frequency, presence of spouse, nutritional status, and whether the effect of frequency of non-face-to-face contact on late-life depression was increased by participation in social activity, frequent physical activity, and good cognitive function (p for interaction<0.05). Conclusion Frequent contact with non-cohabitating children lowers the risk of depression later in life. Several variables were identified as significant moderators of contact frequency and depression symptoms.

Sirtuins (SIRTs) belong to the nicotinamide adenine dinucleotide (NAD+)-dependent class III histone deacetylase family. They are key regulators of cellular and physiological processes, such as cell survival, senescence, differentiation, DNA damage and stress response, cellular metabolism, and aging. SIRTs also influence carcinogenesis, making them potential targets for anticancer therapeutic strategies. In this study, we investigated the anticancer properties and underlying molecular mechanisms of a novel SIRT1 inhibitor, MHY2251, in human colorectal cancer (CRC) cells. MHY2251 reduced the viability of various human CRC cell lines, especially those with wild-type TP53. MHY2251 inhibited SIRT1 activity and SIRT1/2 protein expression, while promoting p53 acetylation, which is a target of SIRT1 in HCT116 cells. MHY2251 treatment triggered apoptosis in HCT116 cells. It increased the percentage of late apoptotic cells and the sub-G1 fraction (as detected by flow cytometric analysis) and induced DNA fragmentation. In addition, MHY2251 upregulated the expression of FasL and Fas, altered the ratio of Bax/Bcl-2, downregulated the levels of pro-caspase-8, -9, and -3 proteins, and induced subsequent poly(ADP-ribose) polymerase cleavage. The induction of apoptosis by MHY2251 was related to the activation of the caspase cascade, which was significantly attenuated by pre-treatment with ZVAD-FMK, a pan-caspase inhibitor. Furthermore, MHY2251 stimulated the phosphorylation of c-Jun N-terminal kinase (JNK), and MHY2251-triggered apoptosis was blocked by pre-treatment with SP600125, a JNK inhibitor. This finding indicated the specific involvement of JNK in MHY2251-induced apoptosis. MHY2251 shows considerable potential as a therapeutic agent for targeting human CRC via the inhibition of SIRT1 and activation of JNK/p53 pathway.

Deep learning-based applications have great potential to enhance the quality of medical services. The power of deep learning depends on open databases and innovation. Radiologists can act as important mediators between deep learning and medicine by simultaneously playing pioneering and gatekeeping roles. The application of deep learning technology in medicine is sometimes restricted by ethical or legal issues, including patient privacy and confidentiality, data ownership, and limitations in patient agreement. In this paper, we present an open platform, MI2RLNet, for sharing source code and various pre-trained weights for models to use in downstream tasks, including education, application, and transfer learning, to encourage deep learning research in radiology. In addition, we describe how to use this open platform in the GitHub environment. Our source code and models may contribute to further deep learning research in radiology, which may facilitate applications in medicine and healthcare, especially in medical imaging, in the near future. All code is available at https://github.com/mi2rl/MI2RLNet.

Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus-2 not yet has established its treatment, but convalescent plasma has been expected to increase survival rates as in the case with other emerging viral infections. We describe two cases of COVID-19 treated with convalescent plasma infusion. Both patients presented severe pneumonia with acute respiratory distress syndrome and showed a favorable outcome after the use of convalescent plasma in addition to systemic corticosteroid. To our knowledge, this is the first report of the use of convalescent plasma therapy for COVID-19 in Korea.