Background: Dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin (dd-MVAC) is an established regimen for advanced urothelial carcinoma (aUC). Although platinum-based chemotherapy, typically gemcitabine and cisplatin, followed by switch maintenance avelumab has been a recommended strategy for aUC, no study has evaluated outcomes of dd-MVAC followed by avelumab therapy.
Methods: We reviewed 71 patients treated with first-line dd-MVAC for aUC at two university hospitals between 2018 and 2024.
Purpose: The ClinGen Hearing Loss Gene Curation Expert Panel (GCEP) was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen's semi-quantitative framework. ClinGen mandates timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong, every 2-3 years.
Methods: Thirty-five GDRs met the criteria for recuration within two years of original curation.
Background: Dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin (dd-MVAC) regimen has been established as a systemic chemotherapy for patients with urothelial carcinoma. However, it is rarely used in Japan owing to the challenges associated with managing the related adverse events. This study aimed to optimize the dd-MVAC protocol for Japanese patients.
View Article and Find Full Text PDFThere are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFPhotobiomodulation (PBM) occurs when a cell is exposed to low energy intensities. A novel central venous port (CVP) with light-emitting diodes (LEDs) that emits red light with a wavelength of 680 nm via wireless energy transmission technology has been established. This comparative in vitro study examined whether PBM can reduce the growth of methicillin-resistant Staphylococcus aureus (MRSA), a common cause of central venous (CV) infections, in vitro.
View Article and Find Full Text PDFPerrault syndrome is an autosomal recessive condition characterized by hearing loss and ovarian failure. Hearing loss in Perrault syndrome has been reported as sensorineural; however, only two cases in a single report have comprehensively investigated hearing in Perrault syndrome with TWNK variant, and the association between this variant and auditory neuropathy has not been established. The proband presented with hearing difficulties and primary amenorrhea.
View Article and Find Full Text PDFNeurotoxicity associated with high-dose chemotherapy and whole brain radiotherapy (WBRT) is one of major complications for patients with central nervous system lymphoma (CNSL). Here we determined the incidence and risk factors of treatment-related leukoencephalopathy (tLE) in a clinical setting. We retrospectively reviewed clinical and radiological findings of 126 patients with (CNSL) treated with high-dose methotrexate with or without intrathecal methotrexate administration (IT MTX) and response-adapted WBRT.
View Article and Find Full Text PDFHabitat fragmentation reduces gene flow, causing genetic differentiation and diversity loss in endangered species through genetic drift and inbreeding. However, the impact of habitat fragmentation on ectomycorrhizal (ECM) fungi remains unexplored, despite their critical roles in forest ecosystems. Here, we investigated the population genetic structure and the demographic history of Rhizopogon togasawarius, the ECM fungus specifically colonizing the host tree Pseudotsuga japonica, across its entire distribution range (>200 km).
View Article and Find Full Text PDFIn this study, we report a case of bilateral mild hearing loss and keratoderma caused by a gap junction beta-2 (GJB2) variant. The proband was a nine-year-old Japanese boy with bilateral mild hearing loss at birth. The proband's father, sister, paternal aunt, and cousins had mild sensorineural hearing loss.
View Article and Find Full Text PDFRoot-colonizing fungi, such as mycorrhizal fungi and dark septate endophyte fungi, are often found on pioneer plant species during early primary succession. However, little is known about which fungal species are responsible for the establishment of pioneer plants when these symbionts colonize simultaneously. We investigated the root-colonizing fungal communities of Pinus thunbergii that established prior to lichens, bryophytes, and short-lived herbaceous plants in a primary successional volcanic mudflow site on Kuchinoerabu Island, Japan.
View Article and Find Full Text PDFBackground: While concomitant medications can affect the efficacy of immune checkpoint inhibitors (ICIs), few studies have assessed associations of concomitant medications with the occurrence and profile of immune-related adverse events (irAEs).
Methods: This study assessed associations of concomitant medication (antibiotics/proton pump inhibitors (PPIs)/corticosteroids)-based risk model termed the "drug score" with survival and the occurrence and profile of irAEs in 851 patients with advanced cancer treated with ICIs (with or without other agents). The study also assessed the survival impact of the occurrence of irAEs, using a landmark analysis to minimize immortal time bias.
Background: Weekly paclitaxel + ramucirumab (wPTX + RAM) therapy is recommended as the standard second-line chemotherapy regimen for unresectable advanced/recurrent gastric cancer (GC) or esophagogastric junction cancer. Recent subgroup analysis of the RAINBOW trial revealed a higher frequency of severe neutropenia due to wPTX + RAM in Japanese compared to Western patients. However, no risk factors for severe neutropenia have been identified.
View Article and Find Full Text PDFBackground: Single-agent chemotherapy with or without bevacizumab (Bev) is a standard therapy for platinum-resistant ovarian cancer (PR-OC). However, there is a lack of literature on chemotherapy agent selection in heterogenous PR-OC. Therefore, we aimed to clarify the heterogeneous treatment effects of each chemotherapy agent.
View Article and Find Full Text PDFThe primary succession of ectomycorrhizal (ECM) fungi has been well described for Pinus and Salix, but the succession for other pioneer hosts is almost unknown. Here, we investigated ECM fungal communities of Alnus sieboldiana at different host growth stages in a primary successional volcanic site on Izu-Oshima Island, Japan. ECM root tips were collected from 120 host individuals, encompassing seedling, sapling, and mature tree stages.
View Article and Find Full Text PDFBackground: In utero intestinal volvulus with intestinal atresia is a rare and life-threatening condition that can cause torsion of the dilated bowel. The management and outcomes of this disease remain unclear.
Case Presentation: A 19-year-old woman noticed a decrease in fetal motion at 35 weeks.
NF2-related schwannomatosis (NF2) is an autosomal dominant genetic disorder caused by variants in the NF2 gene. Approximately 50% of NF2 patients inherit pathogenic variants, and the remainder acquire de novo variants. NF2 is characterized by development of bilateral vestibular schwannomas.
View Article and Find Full Text PDFBackground: A couples' psycho-educational program called Oncofertility! Psycho-Education and Couple Enrichment (O!PEACE) therapy was created and its effect when provided before cancer treatment was examined.
Methods: This multicenter randomized controlled trial with nonmasking, parallel two-group comparison enrolled women aged 20 to 39 years with early-stage breast cancer and their partners. They were randomly assigned to receive O!PEACE (37 couples) or usual care (37 couples).
Purpose: Pegylated liposomal doxorubicin (PLD)-induced hand-foot syndrome (HFS) frequently lowers the quality of life of ovarian cancer patients. Wrist and ankle cooling, having a limited preventive effect, has been the commonest supportive HFS care. In this study, we retrospectively assessed the primary preventive effect of a combination of regional cooling and oral dexamethasone therapy (cooling + oral Dex) on HFS.
View Article and Find Full Text PDFMethylene blue (MB) acted as a stabilizer for preventing surface-induced denaturation of tyrosinase (TYR) adsorbed on a carbon felt (CF) surface, which is based on shield and anchor roles preventing the unfavorable conformational change of TYR on the hydrophobic CF surface. Furthermore, MB acted as an effective adhesive for TYR immobilization on CF. The resulting TYR and MB coadsorbed CF (TYR/MB-CF) worked as an excellent working electrode unit in an electrochemical detector in a flow injection amperometric biosensor, which allowed highly sensitive consecutive determination of not only TYR substrates but also competitive inhibitors.
View Article and Find Full Text PDFPurpose: Docetaxel + cisplatin + 5-fluorouracil (DCF) therapy, a frequently prescribed regimen for esophageal cancer, is associated with a high risk of febrile neutropenia (FN). This study investigated whether a low skeletal muscle mass index (SMI) is an independent risk factor for FN.
Methods: This retrospective, observational study investigated the SMI of patients with esophageal cancer who received DCF therapy between March 2018 and July 2020.
Objective: Although the incidence of febrile neutropenia (FN) is relatively higher for doxorubicin and cisplatin combination regimen than for other regimens in endometrial cancer, evidence regarding the efficacy of pegfilgrastim in this regimen is lacking.
Materials And Methods: We retrospectively reviewed the data of 58 patients with endometrial cancer who were treated with doxorubicin plus cisplatin. The patients were divided into primary prophylaxis and non-prophylaxis groups.
Tissue-resident macrophages expressing lymphatic vessel endothelial hyaluronan receptor-1 (LYVE-1) are found in multiple tissues and organs. We aimed to evaluate the dynamics and biological functions of LYVE-1 macrophages in dental pulp during post-injury tissue remodeling. Immunofluorescence staining of mouse embryos revealed that LYVE-1 macrophages colonized dental pulp before birth.
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