23 results match your criteria: "NHO Osaka Toneyama Medical Center[Affiliation]"

Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.

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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated disease that mainly affects the peripheral nerves and nerve roots and typically presents with distal dominant motor and sensory disturbances as clinical symptoms. Central nervous system (CNS) demyelination with inflammation occurs infrequently in patients with CIDP. Here, we present a unique autopsy report of CIDP causing severe demyelination along the entire spinal cord.

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Objectives: Programmed cell death ligand 1 (PD-L1) expression is widely used to predict the effectiveness of PD-(L)1 inhibitors despite its imperfection. Previous studies suggested the utilization of various serum biomarkers; nonetheless, findings are inconclusive because of limited sample sizes or the focus on a single biomarker in many of these studies. This study analyzed multiplex serum biomarkers to explore their predictive ability in a large cohort of patients with advanced non-small-cell lung cancer (NSCLC) treated with a PD-L1 inhibitor in a real-world setting.

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Background: Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear.

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Article Synopsis
  • - This study investigates the effectiveness of the minute ventilation-carbon dioxide production slope compared to the oxygen uptake efficiency slope in assessing exercise efficiency in COPD patients.
  • - The researchers analyzed data from 122 COPD patients across all GOLD stages, finding significant differences in exercise parameters between mild (GOLD I-II) and more severe (GOLD III-IV) groups.
  • - Results showed that the minute ventilation-carbon dioxide production slope had a stronger correlation with key indicators of oxygen consumption than the oxygen uptake efficiency slope, particularly in severe cases of COPD with exertional hypoxemia.
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CTG repeat length underlying cardiac events and sudden death in myotonic dystrophy type 1.

Eur Heart J Open

September 2024

Department of Clinical Laboratory and Biomedical Sciences, Osaka University Graduate School of Medicine, 1-7 Yamadaoka, Suita, Osaka 565-0871, Japan.

Article Synopsis
  • Myotonic dystrophy Type 1 (DM1) is linked to the expansion of CTG repeats in the DMPK gene and may be associated with heart issues and sudden death, but this relationship is not fully understood in Japan and Europe.
  • A study analyzed 496 DM1 patients from nine Japanese hospitals, finding that those with 1300 or more CTG repeats had a significantly higher risk of serious cardiac events and mortality compared to those with fewer repeats.
  • The results suggest that patients with 1300 or longer CTG repeats are particularly at risk for cardiac complications and increased death rates, while the rate of sudden death was not significantly different across groups.
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Article Synopsis
  • * The study compared clinical data from 29 NTM-PD patients and 12 control participants, finding that NTM-PD patients had lower peak oxygen uptake and correlated changes in oxygen consumption during exercise with ventilatory variables, imaging findings, and cardiac pressure gradients.
  • * Results indicate that exertional oxygen consumption is linked to exercise tolerance and ventilatory efficiency in NTM-PD patients, highlighting the importance of tailoring rehabilitation programs to address their unique respiratory challenges like tachypnea and bronchiectasis.
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We characterized blood glucose fluctuations in patients with myotonic dystrophy type 1 (DM1). After confirming the incretin secretion capacity of patients with DM1, we intended to clarify whether dipeptidyl peptidase 4 (DPP-4) inhibitor administration was appropriate in cases of DM1 with diabetes mellitus. A 48 h continuous glucose monitoring (CGM) was performed in 29 Japanese patients with DM1.

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Background/aim: For patients treated with osimertinib as first-line therapy, there have been no studies comparing both progression-free survival (PFS) and overall survival (OS) according to performance status (PS). Furthermore, no studies have examined differences in baseline genetic abnormalities between patients with poor and good PS. Therefore, we aimed to investigate differences in baseline genetic abnormalities and treatment effects between patients with poor and good PS who received osimertinib as the primary treatment.

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Article Synopsis
  • - The study investigates how well conventional MRI can differentiate corticobasal degeneration (CBD) from its mimics due to similar clinical features.
  • - Researchers analyzed the degree of brain atrophy and asymmetry in MRI images of 19 CBD patients and 16 patients with conditions that mimic CBD, like Alzheimer's and progressive supranuclear palsy.
  • - Findings suggest that specific patterns of atrophy and the presence of white matter hyperintensity can be used as imaging biomarkers to help diagnose CBD more accurately.
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Background: Duchenne muscular dystrophy (DMD) is a devastating X-linked muscle disease. Clinical evaluation of DMD uses patient-intensive motor function tests, and the recent development of wearable devices allows the collection of a variety of biometric information, including physical activity.

Objective: In this study, we examined differences in physical activity and heart rate variability (HRV) between patients with DMD and healthy subjects using a wearable device, and investigated any association between these parameters and motor function in patients with DMD.

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Purpose: The Facioscapulohumeral Muscular Dystrophy Health Index (FSHD-HI) is a patient-reported outcome measure developed for patients with FSHD. This study aimed to translate the FSHD-HI into Japanese (FSHD-HI-J), evaluate cultural adaptation, and examine its psychometric properties.

Materials And Methods: We created two forward translations, integrated them into a single Japanese version, and evaluated the back-translated version of the FSHD-HI.

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Article Synopsis
  • The study investigates how new antirheumatic drugs affect the characteristics of lymphoproliferative disorder (LPD) in rheumatoid arthritis (RA) patients, using data from 53 hospitals in Japan between 1999 and 2021.
  • A total of 752 patients with RA-associated LPD were compared to 770 with sporadic LPD, revealing notable differences in their clinical features and the impact of various drug combinations.
  • The findings suggest that medications taken before LPD onset may alter its characteristics, and recommend tocilizumab (TCZ) as a better treatment option after LPD has developed.
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Article Synopsis
  • Researchers previously found that widening the larynx can enhance exercise tolerance in patients with COPD.
  • A case study of a severe COPD patient revealed that leaning forward caused extended expiration time and significant laryngeal narrowing while not obstructing the trachea.
  • The findings suggest that how body positioning affects airway function could play a crucial role in improving exercise tolerance for individuals with COPD.
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This pilot study analyzed the dietary patterns of patients with non-small cell lung cancer undergoing initial pembrolizumab, an immune checkpoint inhibitor (ICI), treatment in the month before treatment. Serum fatty acid fractions and their associations with ICI treatment efficacy were also investigated. The results showed that long-term survivors (those who survived for ≥ 3 years) consumed significantly more seafood than short-term survivors (those who survived for < 3 years).

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Article Synopsis
  • Corticobasal degeneration (CBD) presents a diverse clinical picture, making it challenging to predict its underlying pathology, which varies significantly among patients.
  • A study examined 32 patients with confirmed CBD, highlighting that initial symptoms like gait disturbances often appeared quickly, while other issues such as cognitive impairment and dysphagia developed over the following years.
  • The most common underlying pathologies included CBD itself, progressive supranuclear palsy, and Alzheimer's disease, with specific patterns of symptom development observed correlating to these conditions.
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Article Synopsis
  • - This study investigates the clinical aspects of Becker muscular dystrophy (BMD), a milder form of Duchenne muscular dystrophy (DMD), focusing on muscle, respiratory, cardiac, and central nervous system involvement in 225 patients.
  • - Most patients presented initial muscular symptoms, with gait disturbances noted in over half, and a small percentage requiring ventilators or showing heart complications, with specific genotype correlations found.
  • - The findings are significant for guiding treatment and preventive measures for BMD, offering crucial insights for both patients and healthcare professionals.
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Accumulation of abnormal transactivation response DNA-binding protein of 43 kDa (TDP-43) independently induces dopaminergic neuronal loss in the substantia nigra without Lewy pathology, and results in typical Parkinson's disease-like motor symptoms.

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To clarify the influence of coronavirus disease-19 (COVID-19) on the care of muscular dystrophy patients, we performed a questionnaire survey that was posted on the internet on May 11, 2020. By the end of July 2020, 542 responses had been collected. Approximately 30% of patients postponed regular consultations, and one-quarter of patients who received consultation more than once a month used telephone consultations.

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We report an autopsy case of amyotrophic lateral sclerosis with L126S mutation in the superoxide dismutase 1 (SOD1) gene (SOD1). The patient was a 69-year-old Japanese man without relevant family history, who initially presented with slow progressive muscle weakness of the lower extremities without upper motor neuron signs, and died of respiratory failure 6 years after the onset. Neuropathological examination revealed a loss of lower motor neurons and degeneration of Clarke's column commensurate with that of the posterior spinocerebellar tract and the middle root zone of the posterior column.

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Bile acid abnormality induced by intestinal dysbiosis might explain lipid metabolism in Parkinson's disease.

Med Hypotheses

January 2020

Department of Neurology, NHO Osaka Toneyama Medical Center, Toyonaka, Osaka, Japan; Organic Clinic, Toyonaka, Osaka, Japan.

Intestinal dysbiosis refers to an imbalance in the intestinal flora. The concept of small intestinal bacterial overgrowth (SIBO), a condition of abnormal proliferation of the small intestine microbiota, has been proposed as a form of small intestine dysbiosis. In Parkinson's disease patients, weight loss and metabolic disorders such as lipid abnormalities are frequently encountered.

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