Publications by authors named "So Okubo"
Article Synopsis
- Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease, with recent connections made between variants in the SPTLC1 gene and both hereditary neuropathy and juvenile ALS.
- The study analyzed genetic data from patients with familial and sporadic ALS to assess the presence and effects of SPTLC1 variants, using techniques like RT-PCR and ddPCR to evaluate splicing and genetic mosaicism.
- A specific SPTLC1 variant was found in a 21-year-old female patient with juvenile ALS, inherited from her asymptomatic father who exhibited a mosaic form of the variant, highlighting the need for further exploration of the clinical implications of such mosaicism.
Mixed-phenotype acute leukemia (MPAL) with -TKD mutations is a rare and challenging subtype of leukemia. Effective management strategies are crucial for improving patient outcomes. A 31-year-old man with -TKD-mutated MPAL achieved hematological remission through the JALSG ALL202-O protocol and gilteritinib, followed by cord blood transplantation (CBT).
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- - Cold agglutination syndrome is an autoimmune hemolytic anemia that causes red blood cells to clump and break down in cold temperatures, and it can be categorized into primary (occurring on its own) and secondary (occurring due to underlying infections like COVID-19).
- - A case study discusses a 69-year-old Japanese woman with periodontitis who suffered from brown urine and chest pain, revealing severe anemia linked to cold agglutination syndrome and multiple lung abscesses after her COVID-19 vaccination.
- - The findings suggest that COVID-19 can lead to secondary cold agglutination syndrome, which may worsen due to bacterial infections in the bloodstream, indicating a potential risk for patients recovering from
Longitudinally extensive myelitis with 15 or more vertebrae in length is extremely rare, with limited evidence regarding clinical features and therapeutic response. We report a case of a 29-year-old male patient with extremely longitudinally extensive myelitis ultimately diagnosed as myelin oligodendrocyte glycoprotein-associated disease (MOGAD). The patient presented with an acute onset of meningismus, limb weakness, sensory disturbance below the C5 level, ataxia, and urinary retention.
View Article and Find Full Text PDFObjectives: To address the paucity of HIV-related lymphoma (HRL)-specific prognostic scores for the Japanese population by analyzing domestic cases of HRL and constructing a predictive model.
Design: A single-center retrospective study coupled with a review of case reports of HRL.
Methods: We reviewed all patients with HRL treated at our hospital between 2007 and 2023 and conducted a comprehensive search for case reports of HRL from Japan using public databases.
Cancer cachexia is a disorder that affects patient outcomes. The present study prospectively evaluated the prognostic value of the cachexia index (CXI) in elderly patients with non-Hodgkin's lymphoma (NHL). We prospectively analyzed 51 elderly patients who were diagnosed with NHL at our institution.
View Article and Find Full Text PDFCongenital hemoglobin disorders typically present as hemolytic anemia, but there are also numerous reports of thrombotic complications in these diseases, suggesting an associated hypercoagulative state. In hemoglobin Köln, the most common type of unstable hemoglobinopathy worldwide, there have not been many reports of such thrombotic phenomena. We herein describe the case of a patient with hemoglobin Köln demonstrating acute cerebral infarction.
View Article and Find Full Text PDFHuman immunodeficiency virus (HIV)-associated neuropathy is a common complication of HIV infection and has several clinical subtypes. HIV-associated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a demyelinating neuropathy whose clinical features are known to differ from those of CIDP in the HIV-uninfected population. We herein report a case of CIDP in an HIV-infected patient who was finally diagnosed with anti-neurofascin 155 (NF155) antibody-positive neuropathy.
View Article and Find Full Text PDFBackground And Aims: Pathogenic variants of HSPB1, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot-Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu variant of HSPB1.
Methods: Whole-exome sequence analysis identified a heterozygous pathogenic variant (Pro39Leu) of HSPB1 in the proband.
Background: Pancreatic exocrine insufficiency (PEI) is known to occur after total gastrectomy. We experienced a case of PEI occurring 18 years after surgery, leading to a potentially fatal condition of capillary leak syndrome (CLS).
Case Presentation: The case is a 58-year-old man on a healthy diet who underwent total gastrectomy 18 years before.