Publications by authors named "Miyamoto R"

Objective: Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disease affecting the central and peripheral nerves. We aimed to assess the pathophysiological features of peripheral nerve dysfunction in NIID.

Methods: We observed six unrelated NIID patients through clinical records, nerve conduction studies, and multiple measures of motor nerve excitability.

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The pathogenesis of heart failure with preserved ejection fraction (HFpEF) remains unclear, and effective treatments are limited. HFpEF is more prevalent in females, indicating potential gender differences in its pathogenesis. However, no female HFpEF model animals have been established.

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Muscle tissue is stabilized by the strong interaction between laminin and matriglycan. Matriglycan is a polysaccharide composed of the repeating disaccharide, -3Xylα1-3GlcAβ1-, and is a pivotal part of the core M3 O-mannosyl glycan. Patients with muscular dystrophy cannot synthesize matriglycan or the core M3 O-mannosyl glycan due to a defect in or the lack of glycosyltransferases owing to glycan synthesis.

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Background: Most coronary artery aneurysms (CAAs) are clinically asymptomatic and are only detected incidentally during cardiac imaging. However, CAAs can cause fatal complications such as cardiac tamponade following a rupture. Reports of contained ruptures of CAAs are limited.

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This study aimed to propose a methodology for developing a mechanistic model for viral clearance of the minute virus of mice (MVM) on flow-through anion exchange (AEX) chromatography. Protein surface analysis was applied to investigate the possibility of molecular interaction between the recombinant biotherapeutic and MVM. The protein product-free Tris buffers were spiked with MVM, and the MVM elution profile from AEX chromatography was quantitatively analyzed using quantitative polymerase chain reaction (qPCR) for pooled fractions.

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Thyroid transcription factor 1 (TTF-1) is primarily expressed in lung and thyroid cancers, but it has also been observed in other cancers. A 60-year-old woman presented with worsening dyspnea, pleural effusion, lung metastases, a right ovarian tumor, and para-aortic intra-abdominal lymph node metastasis. Biopsies from the pleural dissemination revealed TTF-1-positive adenocarcinomas.

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Background/objectives: Colorectal neoplasia developing from ulcerative colitis mucosa (CRNUC) can be divided into ulcerative colitis-associated neoplasia (UCAN) and non-UCAN; however, it is often difficult to distinguish UCAN from non-UCAN during a biopsy diagnosis. We investigated whether a genomic analysis could improve the diagnostic accuracy of UCAN using biopsy specimens.

Methods: In step 1, 14 CRNUCs were used to examine whether the genomic landscape of biopsy and resection specimens matched.

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Article Synopsis
  • Inhibition of WEE1, which controls a checkpoint in the cell cycle, triggers cell death by forcing cell division without fixing DNA damage, but its impact on colorectal cancer (CRC) immunity wasn't well understood.
  • Researchers found that WEE1 expression was not linked to CRC characteristics but that WEE1 inhibitors reduced cancer cell growth and increased cell death, particularly in mutated cells.
  • In mouse models, WEE1 inhibitor treatment resulted in smaller tumors and enhanced immune responses against the cancer, indicating its potential benefits for CRC patients, especially those with specific mutations.
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  • - In-home automated scoring systems for sleep stages are in high demand but face challenges in clinical settings due to issues with electrode contact and limited measurable signals, leading to inaccurate scores.
  • - A new method using an ensemble of small scoring models that utilize different input signal sets can significantly improve scoring accuracy and reduce the impact of electrode contact problems, showing an 8.3 point improvement in accuracy for problematic signals.
  • - This approach not only enhances overall scoring accuracy but also effectively addresses the limitations of traditional methods, making in-home sleep scoring systems more viable for clinical use.
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Herein, we report a rare case of pulmonary nontuberculous mycobacterial (NTM) infection caused by Mycolicibacter kumamotonensis in a 73-year-old man successfully treated with clarithromycin, rifampicin, and ethambutol. Seven cases of NTM disease caused by M. kumamotonensis have been previously described, with characteristics differing from those of more common NTM diseases.

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Background: A rotator cuff retear following arthroscopic rotator cuff repair (ARCR) is a concern in older patients. However, only a few of its risk factors are amenable to preoperative intervention. We aimed to elucidate the relationship between preoperative nutritional status and rotator cuff retears after ARCR.

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Fungal lipolytic enzymes play crucial roles in various lipid bio-industry processes. Here, we elucidated the biochemical and structural characteristics of an unexplored fungal lipolytic enzyme (TaLip) from Thermoascus aurantiacus var. levisporus, a strain renowned for its significant industrial relevance in carbohydrate-active enzyme production.

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  • ApoA-I amyloidosis is a rare systemic condition that typically affects the heart, kidneys, and liver.
  • It is caused by inherited amyloidogenic variants of the APOA1 gene, passed down in an autosomal dominant way.
  • The case study discusses a 69-year-old man with sporadic cardiac amyloidosis who has a homozygous variant of the APOA1 gene, stemming from his consanguineous parents.
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  • Prostaglandin E-major urinary metabolite (PGE-MUM) is highlighted as a key biomarker that indicates the cytokine profile in patients.
  • A 14-year-old boy with severe ulcerative colitis didn't respond to traditional treatments like steroids and infliximab, requiring consideration of surgery.
  • Elevated PGE-MUM levels suggested a specific cytokine profile, leading to successful treatment with mirikizumab, which resulted in the patient achieving remission.
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Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant.

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Ka Malu a Wa'ahila, an Indigenous-centered and student-informed program, was established in 2022 to meet the growing behavioral health needs of Native Hawaiian college students at the University of Hawai'i at Mānoa. Utilizing a cultural safety foundation and relying on the wisdom of community voices articulated by the Pilinahā framework, clinicians provide prevention, direct intervention, and outreach services. As the program continues to evolve, future plans include expanding to other Pacific Islanders and developing an additional layer of systemic change through building an Indigenous behavioral health training pathway and training curriculum for clinicians serving Native Hawaiian and Pacific Islander (NHPI) communities.

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  • Tumor-associated macrophages (TAMs) and cancer-associated fibroblasts (CAFs) interact in colorectal cancer (CRC), impacting tumor immunity and development.
  • This study found that colon-cancer-derived CAFs promote the differentiation of monocytes into M2 macrophages, which are linked to tumor growth.
  • Combining a CAF inhibitor (PLX3397) with anti-PD-1 therapy enhanced anti-tumor immunity and reduced tumor growth in a mouse CRC model, suggesting a potential new treatment strategy.
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Neurofibromatosis type 1 (NF1) is an autosomal dominant multi-organ disease. The clinical manifestations include not only skin lesions and malignant tumors but also lung complications, including pulmonary arterial hypertension (PAH). However, the association between gene mutations in NF1 and the occurrence of PAH has not yet been elucidated.

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Aim: Patients with schizophrenia often exhibit poor life skills, posing significant clinical challenges. Life skills comprise cognitive functions crucial for planning daily activities, including divergent thinking. However, the cognitive deficits contributing to these diminished skills among patients with schizophrenia are underexplored.

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  • In colorectal cancer, the type of fibrotic stroma in tumors helps predict patient outcomes, while in pancreatic cancer (PC), the fibrotic stroma, called desmoplasia, needs better characterization for prognostic evaluation.
  • A study of 167 patients with resected PC classified desmoplastic reactions into mature, intermediate, and immature patterns and analyzed their impact on survival rates.
  • Results indicated that mature desmoplastic patterns are linked to better disease-free survival, suggesting that understanding these patterns could improve treatment strategies for PC patients.
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Orbital disorders in children consist of varied pathologies affecting the orbits, orbital contents, visual pathway, and innervation of the extraocular or intraocular muscles. The underlying etiology of these disorders may be traumatic or nontraumatic. Presumed location of the lesion along with the additional findings, such as eye pain, swelling, exophthalmos/enophthalmos, erythema, conjunctival vascular dilatation, intraocular pressure, etc, help in determining if imaging is needed, modality of choice, and extent of coverage (orbits and/or head).

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  • This study investigated repeat expansion in patients with adult-onset cerebellar ataxia, focusing on the differences between Japanese and non-Japanese populations.
  • The researchers used nanopore sequencing to analyze samples from 460 Japanese patients and various control groups, finding that different repeat motifs (GCA in Japanese vs. GGA in non-Japanese) affect pathogenicity.
  • Ultimately, the study highlights how unique features of repeat expansion and genetic background contribute to the prevalence of the disease in different ethnic groups.
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Background: Glutaminase 1 (GLS1), a key enzyme in glutamine metabolism in cancer cells, acts as a tumor promoter and could be a potential therapeutic target. CB-839, a GLS1-specific inhibitor, was developed recently. Herein, we aimed to elucidate the anti-tumor effects and mechanism of action of CB-839 in colorectal cancer (CRC).

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Low-power wide-area (LPWA) is a communication technology for the IoT that allows low power consumption and long-range communication. Additionally, packet-level index modulation (PLIM) can transmit additional information using multiple frequency channels and time slots. However, in a competitive radio access environment, where multiple sensors autonomously determine packet transmission, packet collisions occur when transmitting the same information.

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