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SPG30 is a newly categorized type of HSP caused by variants in the kinesin family member 1A gene (KIF1A). Advances in next-generation sequencing have resulted in a limited number of studies describing the clinical, electrophysiological, and radiological features of HSP, with variable manifestations. Most known pathogenic KIF1A variants affect the motor domain, although some rare pathogenic variants have been identified that affect the non-motor domain. Here, we report a Korean family with a rare homozygous autosomal-recessive form of SPG30. A 59-year-old man and his father presented with an uncomplicated, mild SPG30 phenotype, characterized by a progressive, spastic gait. Familial co-segregation analysis revealed a pathogenic c.2751_2753delGGA KIF1A variant that affects the non-motor domain. Our case broadens the genetic and clinical variability of SPG30, warranting similar studies to consolidate the pathogenicity of SPG30., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

This study aimed to examine the relationships between sports participation, optimism/pessimism, self-regulation, and coronavirus-related stress in Korean adolescents during the pandemic situation. Specifically, we attempted to offer valuable information that could help to alleviate coronavirus-related stress in adolescents by promoting participation in sports and the development of optimism and self-regulation. To achieve this aim, we conducted an online survey of 836 Korean adolescents in the pilot and main studies. Confirmatory factor, frequency, path, reliability, descriptive statistical, and multimedia analyses were performed. Our findings indicated several differences for each variable according to demographic characteristics. Sports participation exerted a positive effect on optimism ( p < 0.001) and self-regulation ( p < 0.01) and negative effects on coronavirus-related stress ( p < 0.05) and pessimism ( p < 0.001). In addition, optimism exerted a positive effect on self-regulation ( p < 0.001) and a negative effect on coronavirus-related stress ( p < 0.001), while pessimism exerted a negative effect on self-regulation ( p < 0.01) and a positive effect on coronavirus-related stress ( p < 0.001). Further analysis indicated that self-regulation had a negative effect on coronavirus-related stress ( p < 0.05). These findings highlight the need for youth educational institutions to encourage adolescents to participate in sports and for organizing bodies to suggest various policies and provide education that can assist them in properly coping with and overcoming coronavirus-related stress by strengthening their optimistic attitude and self-regulation ability.

Although nilotinib has improved efficacy compared to imatinib, suboptimal response and intolerable adverse events (AEs) limit its effectiveness in many patients with chronic myeloid leukemia in chronic phase (CML-CP). We investigated the 2-year efficacy and safety of nilotinib and their relationships with plasma nilotinib concentrations (PNCs). In this open-label, multi-institutional phase 4 study, 110 Philadelphia chromosome-positive CML-CP patients were treated with nilotinib at a starting dose of 300 mg twice daily. Molecular responses (MRs) and AEs were monitored for up to 24 months. The 24-month cumulative MR 4.5 rate was evaluated as the primary endpoint. Plasma samples were collected from 94 patients to determine PNCs, and the per-patient mean was used to categorize them into four mean PNC (MPNC) groups. Cumulative MR rates and safety were compared between groups. With a median follow-up of 22.2 months, the 24-month cumulative MR 4.5 rate was 56.2% (95% confidence interval, 44.0%-8.3%), and the median time to MR 4.5 was 23.3 months. There were no significant differences in the cumulative rates of major molecular response, MR 4 , and MR 4.5 between MPNC groups. One patient died due to acute viral hepatitis, and two developed hematological or cytogenetic relapse, while no progression to accelerated or blast phase was observed. Safety results were consistent with previous studies with no new safety signal identified. Across the MPNC groups, there was no significant linear trend in the frequency of AEs. Nilotinib is highly effective for the treatment of CML-CP with manageable AEs. The measurement of PNC has no predictive value for patient outcomes and is thus not found to be clinically useful. This study is registered with clinicaltrials.gov, Number NCT03332511., (© 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

Purpose: Pain is one of the most common and devastating symptoms in cancer patients, and misunderstandings on the patient's part can cause major obstacles in pain management., Method: We evaluated factors associated with patient's high barrier score to managing cancer-associated pain by having 201 patients complete the Korean Barriers Questionnaire II, the Brief Pain Inventory--Korean, the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30, and the Korean Beck Depression Inventory. The Pain Management Index (PMI) was also assessed., Results: The patients were from nine oncology clinics in university hospitals and a veterans' hospital in South Korea. The median pain score (0-10 scale) was 4, with a median percentage of pain improvement during the last 24 h of 70 %. A total of 150 patients (75 %) received strong opioids, and 177 (88 %) achieved adequate analgesia (positive PMI). Mean scores ± SD for the Barriers Questionnaire II ranged from 1.5 ± 1 to 2.8 ± 1.1, with the harmful effects subscale the highest. In the multiple regression model, depression was significantly associated with total barrier score to pain management (p < 0.0001). Pain reduction was significantly associated with the fatalism subscale., Conclusions: Depression was associated with high barrier score in patients with cancer pain. Management of cancer pain should include screening for depression, and management of depression could reduce patient-reported barriers to pain management.