Search

Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in GLA , which encodes α-galactosidase A (GLA). The loss or reduced activity of GLA leads to damage to multiple organs, resulting in the intracellular accumulation of globotriaosylceramide in various organs, including the heart, kidneys, and nervous system. Pathological changes in the heart typically result in concentric left ventricular hypertrophy. Hypertrophic cardiomyopathy (HCM) is an intractable disease characterized by unexplained left ventricular hypertrophy and diastolic dysfunction and is typically characterized by asymmetric left ventricular hypertrophy. We performed a causative gene analysis in patients with a rare subtype of HCM, HCM with mid-ventricular obstruction (HCM-MVO), and identified four patients with different pathogenic variants of GLA , which were clinically confirmed as FD. All four patients with FD and rare HCM-MVO morphology were female, and all cases involved the classical form of the disease. Three cases in whom lymphocyte Lyso-Gb3 was measured showed a marked decrease in Lyso-Gb3 after initiating enzyme replacement therapy (ERT). However, even after ERT, myocardial involvement worsened in the long term, and two patients experienced fatal arrhythmias. Therefore, it is difficult to determine the efficacy of myocardial involvement in FD using a lymphocyte-based Lyso-Gb3 assay system. In addition, none of these female patients had renal dysfunction, indicating a different pattern of organ damage compared with that previously reported in male patients., Competing Interests: The authors have no conflicts of interest to declare., (© 2025 The Authors. Published by Elsevier Inc.)

Background: Isocitrate dehydrogenase-mutant astrocytoma without cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) homozygous deletion typically follows a slow clinical course. However, some cases show early progression on magnetic resonance imaging, and these characteristics remain under-reported. This study aimed to elucidate the characteristics of isocitrate dehydrogenase-mutant astrocytoma showing early progression on magnetic resonance imaging., Methods: This retrospective study included 52 cases of primary astrocytoma, isocitrate dehydrogenase-mutant, Central Nervous System (CNS) 5 World Health Organization grade 2-3 according to the World Health Organization 2021 classification. Patients underwent surgery followed by radiation therapy and/or chemotherapy at our institution from 2006 to 2019. Progression-free survival and overall survival were analyzed., Results: There were 24 and 28 grade 2 and grade 3 astrocytomas, respectively. The median patient age was 38 years. Forty-three patients underwent radiotherapy. Progression was diagnosed by magnetic resonance imaging in 22 patients with initial radiotherapy. Thirteen of the 22 patients underwent surgery, and seven of the 13 patients received surgery within 24 months of the initial radiotherapy. Histopathologically, radiation necrosis was confirmed in four of these seven patients (57.1%). The true progression-free survival rate, excluding radiation necrosis, at 2 years after surgery was 91.3% for grade 2 astrocytoma and 88.5% for grade 3 astrocytoma. The 5-year overall survival rate was 85.7% for grade 2 tumours and 76.4% for grade 3 tumours., Conclusions: Radiation necrosis should be considered in cases showing early progression of isocitrate dehydrogenase-mutant astrocytoma, and a second surgery should be performed to confirm true recurrence or radiation necrosis. Astrocytomas with telomerase reverse-transcriptase promoter mutations may relapse relatively early and should be followed up with caution., (© The Author(s) 2024. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objective: To examine whether the Social Life Impact for Mother (SLIM) scale in the first trimester predicts postpartum suicide risk., Methods: We used part of the hospital-based prospective study conducted in obstetric clinics and hospitals in four populous prefectures in Japan (N = 7,462). Participants completed the SLIM scale, including nine risk factors in the first trimester, and postpartum suicide risk was assessed as item-10 in the Edinburgh Postnatal Depression Scale, self-harm ideation, at one month after delivery (N = 5,697)., Results: The weighted total score of the SLIM scale which was calculated using the results of odds ratio predicted postpartum suicide risk with moderate accuracy. Pregnant women with 6+ scores of the new SLIM score were 4.26 (95%CI = 3.12-5.01) times more likely to have postpartum suicide risk. The original SLIM score also predicted postpartum suicide risk. The new SLIM score showed higher accuracy than the original score., Conclusion: The SLIM scale at the first trimester of prenatal checkups may be useful for obstetricians to predict postpartum suicide risk and start to provide support for the expecting mothers. Both weighted total scores could be utilized according to the purpose of implementing the SLIM scale at obstetric institutions., (© 2025 American Association of Suicidology.)

Competing Interests: Declarations. Conflict of interest: Makiko Matsuike, Ryosuke Ito, Jun Yamashita, and Kazuhiro Satomi are affiliated with an endowed department sponsored by Abbott Medical Japan, LLC. However, the authors have no conflicts of interest related to this study.

The manifestation of glioblastoma, IDH-wildtype (GB) as intracranial hemorrhage (ICH) presents diagnostic and therapeutic challenges. Molecular characteristics, including TERT promoter mutation, EGFR amplification, and chromosome 7 gain/10 loss, were incorporated to diagnose GB in the fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System. When molecular analyses fail to detect low fractions of these genetic alterations, the integrated diagnosis of GB can be enigmatic. This case report describes a 58-year-old man presenting with ICH, masking an underlying GB. Initial histopathology of the evacuated hematoma revealed a small number of atypical glial cells, but a definitive diagnosis was deferred. Subsequent surgery and molecular analysis, including digital polymerase chain reaction (dPCR), confirmed the presence of a TERT C228T mutation in the promoter area, leading to an integrated diagnosis of GB. The patient experienced a favorable clinical outcome following surgery, radiation, temozolomide, and tumor-treating field therapy, without recurrence after 50 months. This case underscores the importance of meticulous histological examination of ICH and exemplifies the clinical utility of dPCR as a complementary diagnostic tool. The effectiveness of dPCR is particularly noteworthy, even in scenarios with minimal tumor cell content, reinforcing its value in the integrated diagnosis of GB., (© 2025 Japanese Society of Neuropathology.)