Publications by authors named "T Toda"

Introduction: Patients with neurodegenerative disorders resulting in progressive dysphagia often require gastrostomy. Pulmonary function tests (PFTs) are crucial in presurgical evaluation; however, reports on pulmonary function in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are limited.

Materials And Methods: This single-center, retrospective study analyzed the PFT records from patients with MSA and PSP admitted between January 2012 and October 2023.

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Mutations in leucine-rich repeat kinase 2 () are the most common cause of familial and sporadic Parkinson's disease (PD). While the clinical features of -PD patients resemble those of typical PD, there are significant differences in the pathological findings. The pathological hallmark of definite PD is the presence of α-synuclein (αSYN)-positive Lewy-related pathology; however, approximately half of -PD cases do not have Lewy-related pathology.

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The applause sign (AS) is a recognized phenomenon observed in progressive supranuclear palsy (PSP) and other neurological conditions where individuals produce over three claps following a request to clap only thrice after a demonstration. In this study, we introduced a novel linguistic phenomenon termed the oral applause sign (OAS) associated with the AS. The OAS is characterized by increased repetition counts of Japanese repetitive onomatopoeic words, such as uttering "pata-pata-pata" instead of the expected "pata-pata.

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Background: Chronic kidney disease (CKD) awareness could help prevent disease progression through modifiable risk factors. However, few patients with CKD are aware of their disease. We aimed to investigate the factors associated with CKD awareness and impact of CKD awareness on renal prognosis.

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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.
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