Ryosuke Oki
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View article: An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia
An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia Open
Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders caused by pathogenic variants in more than 40 genes with diverse cellular functions. In this study, we identified the c.247C>T p.(Arg83Trp) variant in RA…
View article: Sporadic medullary thyroid carcinoma with a rare <i>RET</i> transmembrane domain mutation (A641R) that responds to selpercatinib
Sporadic medullary thyroid carcinoma with a rare <i>RET</i> transmembrane domain mutation (A641R) that responds to selpercatinib Open
Medullary thyroid carcinoma is a rare thyroid malignancy derived from parafollicular C cells that is frequently driven by activating mutations in the REarranged during Transfection (RET) proto-oncogene. While most actionable RET mutations …
View article: An Excellent Clinical and Radiological Response Pattern to Pembrolizumab in a Patient With Metastatic Adrenocortical Carcinoma and Lynch Syndrome
An Excellent Clinical and Radiological Response Pattern to Pembrolizumab in a Patient With Metastatic Adrenocortical Carcinoma and Lynch Syndrome Open
Introduction The prognosis of unresectable metastatic adrenocortical carcinoma is very poor. We report a case of Lynch syndrome accompanying metastatic adrenocortical carcinoma treated with pembrolizumab. Case Presentation A 73‐year‐old wo…
View article: Evaluation of the diagnostic performance of brachial plexus ultrasound in amyotrophic lateral sclerosis
Evaluation of the diagnostic performance of brachial plexus ultrasound in amyotrophic lateral sclerosis Open
This study highlights the clinical value of BP-CSA as a potential ALS diagnostic biomarker and underscores its superiority over cervical nerve root measurements.
View article: Confirmatory diagnosis and successive chemotherapeutic treatments of metastatic skeletal <i>EWSR1::NFATC2</i> sarcoma: A case report
Confirmatory diagnosis and successive chemotherapeutic treatments of metastatic skeletal <i>EWSR1::NFATC2</i> sarcoma: A case report Open
EWSR1::NFATC2 sarcoma is rare and its clinical features remain unclear. Given the similarity in presentation, it is possible that previously reported cases of Ewing-like adamantinoma may have been EWSR1::NFATC2 sarcoma. The present case re…
View article: Clinical impact of proteinuria on renal function and treatment outcomes in patients with radioiodine-refractory thyroid cancer treated with lenvatinib
Clinical impact of proteinuria on renal function and treatment outcomes in patients with radioiodine-refractory thyroid cancer treated with lenvatinib Open
Proteinuria has been described as a major on-target adverse event of lenvatinib, although its long-term impact on renal function and clinical outcomes remains unclear. We conducted a retrospective observational study to assess renal functi…
View article: A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome
A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome Open
Introduction Li–Fraumeni syndrome, an autosomal dominant cancer predisposition syndrome caused by a pathogenic variant of TP53 , a tumor suppressor gene, leads to a high risk from early childhood of developing various types of cancers. Her…
View article: Clinical characteristics of sarcoma cases in which long-term disease control was achieved with trabectedin treatment: A retrospective study
Clinical characteristics of sarcoma cases in which long-term disease control was achieved with trabectedin treatment: A retrospective study Open
Trabectedin is a therapeutic option for patients with advanced sarcoma. While a randomized trial demonstrated its prolonged progression-free survival (PFS), the reported PFS was 1 year). The ORR in the 49 evaluable patients was 8%, and the…
View article: An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study
An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study Open
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, with its currently approved drugs, including riluzole and edaravone, showing limited therapeutic effects. Therefore, safe and effective drugs are urgentl…
View article: A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome
A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome Open
Introduction In Lynch syndrome, urothelial cancer is the third most common cancer, following colorectal and endometrial cancers. Little is known, however, about the efficacy of immune checkpoint inhibitors in the treatment of metastatic ur…
View article: Safety and tolerability of bosutinib in patients with amyotrophic lateral sclerosis (iDReAM study): A multicentre, open-label, dose-escalation phase 1 trial
Safety and tolerability of bosutinib in patients with amyotrophic lateral sclerosis (iDReAM study): A multicentre, open-label, dose-escalation phase 1 trial Open
AMED and iPS Cell Research Fund.
View article: The protocol of EPI-589 early Phase 2 Investigator-initiated Clinical trial for ALS (EPIC-ALS): A multi-center, open-labeled, 24-week, single-group, exploratory trial to evaluate the efficacy, safety, and biomarker effects of EPI-589 in amyotrophic lateral sclerosis (Preprint)
The protocol of EPI-589 early Phase 2 Investigator-initiated Clinical trial for ALS (EPIC-ALS): A multi-center, open-labeled, 24-week, single-group, exploratory trial to evaluate the efficacy, safety, and biomarker effects of EPI-589 in amyotrophic lateral sclerosis (Preprint) Open
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, with its currently approved drugs, including riluzole and edaravone, showing limited therapeutic effects. Therefore, safe and effective drugs are urgent…
View article: Geriatric nutritional risk index as a predictor of prognosis in metastatic renal cell carcinoma treated with nivolumab
Geriatric nutritional risk index as a predictor of prognosis in metastatic renal cell carcinoma treated with nivolumab Open
Background: We evaluate the role of the Geriatric Nutritional Risk Index (GNRI) as a prognostic factor in metastatic renal cell carcinoma patients receiving nivolumab.Methods: Fifty-six consecutive patients with metastatic renal cell carci…
View article: Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis
Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis Open
ClinicalTrials.gov Identifier: NCT03548311.
View article: Recent Advances in Medical Therapy for Urological Cancers
Recent Advances in Medical Therapy for Urological Cancers Open
The mainstay of medical treatment has been tyrosine kinase inhibitors (TKIs) for renal cell cancer (RCC), cytotoxic chemotherapy for urothelial cancer (UC), and androgen deprivation therapy for prostate cancer. These therapeutic modalities…
View article: Neuroendocrine Neoplasms of the Breast: The Latest WHO Classification and Review of the Literature
Neuroendocrine Neoplasms of the Breast: The Latest WHO Classification and Review of the Literature Open
Breast tumors with neuroendocrine (NE) differentiation comprise an uncommon and heterogeneous group of tumors, including invasive breast cancer of no special type (IBC-NST) with NE features, neuroendocrine tumors (NETs), and neuroendocrine…
View article: Reliability and validity of D‑dimer monitoring for pulmonary thromboembolism in patients with unresectable, advanced or recurrent colorectal cancer treated with bevacizumab
Reliability and validity of D‑dimer monitoring for pulmonary thromboembolism in patients with unresectable, advanced or recurrent colorectal cancer treated with bevacizumab Open
Pulmonary thromboembolism (PTE) is one of the leading causes of death among cancer outpatients. The aim of the present study was to investigate the reliability and validity of D-dimer monitoring for PTE in patients with unresectable, advan…
View article: Induced pluripotent stem cell–based Drug Repurposing for Amyotrophic lateral sclerosis Medicine (iDReAM) study: protocol for a phase I dose escalation study of bosutinib for amyotrophic lateral sclerosis patients
Induced pluripotent stem cell–based Drug Repurposing for Amyotrophic lateral sclerosis Medicine (iDReAM) study: protocol for a phase I dose escalation study of bosutinib for amyotrophic lateral sclerosis patients Open
Introduction Amyotrophic lateral sclerosis (ALS) is a progressive and severe neurodegenerative disease caused by motor neuron death. There have as yet been no fundamental curative medicines, and the development of a medicine for ALS is urg…
View article: The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial
The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial Open
PRR1-10.2196/12046.
View article: The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial (Preprint)
The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial (Preprint) Open
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. Currently, only riluzole and edaravone are approved as drugs to treat ALS and new agents with larger effect size…