Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study.

Background: Transient receptor potential cation channel subfamily V member 2 (TRPV2) functions as a stretch-sensitive calcium channel, with overexpression in the sarcolemma of skeletal and cardiac myocytes leading to detrimental calcium influx and triggering muscle degeneration. In our previous pilot study, we showed that tranilast, a TRPV2 inhibitor, reduced brain natriuretic peptide levels in two patients with muscular dystrophy and advanced heart failure. Building on this, we performed a single-arm, open-label, multicenter study herein to evaluate the safety and efficacy of tranilast in the treatment of advanced heart failure in patients with muscular dystrophy.

Efficacy and Tolerability of Ivabradine for Cardiomyopathy in Patients with Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) is an intractable X-linked myopathy caused by dystrophin gene mutations. Patients with DMD suffer from progressive muscle weakness, inevitable cardiomyopathy, increased heart rate (HR), and decreased blood pressure (BP). The aim of this study was to clarify the efficacy and tolerability of ivabradine treatment for DMD cardiomyopathy.

The power of instruction on retropulsion: A pilot randomized controlled trial of therapeutic exercise focused on ankle joint movement in Parkinson's disease.

Introduction: Although retropulsion is a serious complication of Parkinson's disease (PD), it is unknown whether ankle joint movement patterns can be targeted to treat retropulsion. The primary aim of this study was to investigate the effectiveness of therapeutic exercise focused on instructions regarding ankle joint movement on retropulsion in PD.

Methods: Twenty patients with moderate PD were randomly allocated to the experimental intervention (INSTR) or control groups.

Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter study.

Background: The transient receptor potential cation channel subfamily V member 2 (TRPV2) is a stretch-sensitive calcium channel. TRPV2 overexpression in the sarcolemma of skeletal and cardiac myocytes causes calcium influx into the cytoplasm, which triggers myocyte degeneration. In animal models of cardiomyopathy and muscular dystrophy (MD), TRPV2 inhibition was effective against heart failure and motor function.

An autopsied case of ADSSL1 myopathy.

ADSSL1 myopathy is an inherited myopathy with limb weakness, respiratory muscle paralysis, dysphagia, and myocardial symptoms. We present an autopsy case of a 66-year-old male carrying compound heterozygous variants c.781G>A (p.

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy.

We here report an autopsy case of familial amyotrophic lateral sclerosis (ALS) with p.Arg487His mutation in the valosin-containing protein (VCP) gene (VCP), in which upper motor neurons (UMNs) were predominantly involved. Moreover, our patient developed symptoms of frontotemporal dementia later in life and pathologically exhibited numerous phosphorylated transactivation response DNA-binding protein of 43 kDa (p-TDP-43)-positive neuronal cytoplasmic inclusions and short dystrophic neurites with a few lentiform neuronal intranuclear inclusions, sharing the features of frontotemporal lobar degeneration with TDP-43 pathology type A pattern.

Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy.

Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated trans-activation response DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected at autopsy.

[Screening of autoantibodies associated with necrotizing myopathy among undiagnosed chronic myopathy].

We screened anti-signal recognition particle (SRP) and anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies among 42 patients who had undiagnosed chronic myopathy from six national hospitals. Anti-SRP and anti-HMGCR antibodies were determined by RNA immuneprecipitation and enzyme-linked immune-sorbent assay (ELISA), respectively. We identified two patients with anti-SRP antibodies (4.

Reduced Coenzyme Q10 Decreases Urinary 8-Oxo-7,8-Dihydro-2'-Deoxyguanosine Concentrations in Healthy Young Female Subjects.

It remains unclear whether dietary supplementation with coenzyme Q10 (CoQ10) provides beneficial effects for healthy individuals, especially young subjects. This study investigated the effects of dietary supplementation with CoQ10 on oxidative stress in healthy young females. We performed a placebo-controlled trial using a crossover design (n=28) with 100 mg/day CoQ10 in reduced form or placebo, each lasting 2 weeks with a 2-week interval.

DNA damage and estrogenic activity induced by the environmental pollutant 2-nitrotoluene and its metabolite.

Objectives: The environmental pollutant 2-nitrotoluene (2-NO(2)-T) is carcinogenic and reproductively toxic in animals. In this study, we elucidated the mechanisms of its carcinogenicity and reproductive toxicity.

Methods: We examined DNA damage induced by 2-NO(2)-T and its metabolite, 2-nitrosotoluene (2-NO-T), using (32)P-5'-end-labeled DNA.

Relationship between neuronal loss and tangle formation in neurons and oligodendroglia in progressive supranuclear palsy.

Progressive supranuclear palsy (PSP) is a progressive degenerative disorder characterized by neuronal loss, gliosis and abnormal fibril formation of abnormally phosphorylated tau protein in neurons and glia cells, but the cause is not clear at present. For the purpose of clarifying the pathological significance of accumulation of tau protein in neurons and oligodendroglia in PSP, we morphologically classified neurofibrillary tangles (NFT) and coiled bodies (CB) in oligodendroglia in three PSP brains into four stages, using double staining for immunohistochemistry with AT8 antibody and modified Gallyas-Braak (GB) staining. AT8-positive neurons without abnormal fibril structure with GB staining were classified as stage I, AT8-positive neurons containing a few fibril structures with GB staining were classified stage II, AT8-positive neurons containing mature fibril structures were classified as stage III, and AT8 negative neurons containing abnormal fibril structures stained only with GB staining were classified as stage IV (ghost tangles).

Movement-related cortical potentials in myotonic dystrophy.

Objective: To investigate a possible deficit of the voluntary movement mechanism within the central nervous system (CNS) in patients with myotonic dystrophy (MyD).

Methods: Movement-related cortical potentials preceding voluntary extension of the right middle and index fingers were studied in 9 patients with MyD and compared with those in 11 age-matched healthy subjects and 9 age-matched patients with other neuromuscular disorders (NMDs).

Results: The amplitudes of Bereitschaftspotential was smaller in MyD patients than in age-matched controls and age-matched patients with other NMDs although there was no statistically significant difference.