Efficacy of endoscopic cricopharyngeal myotomy using a curved rigid laryngoscope in patients with sporadic inclusion body myositis: four retrospective case reviews.

Sporadic inclusion body myositis (s-IBM) is an acquired degenerative inflammatory myopathy that leads to slowly progressive muscle weakness and atrophy of the limbs, face, and pharynx. Owing to the slow progression of the disease, the indications for surgical intervention remain unclear. Herein, we retrospectively reviewed the records of four patients with s-IBM who had undergone cricopharyngeal myotomy for severe dysphagia at our institution between 2016 and 2021.

[A case of anti-acetylcholine receptor antibody-positive ocular myasthenia gravis with anti-titin antibody and anti-Kv1.4 antibody positive inflammatory myopathy].

An 84-year-old man was diagnosed with anti-acetylcholine receptor (AChR) antibody-positive ocular myasthenia gravis (OMG) at the age of 77 and received treatment. The patient was referred to our department with swelling and pain in his right upper arm, which had spread to other limbs. His serum anti-AChR antibody and creatine kinase levels were elevated, and MRI of the limbs displayed signal changes suggesting inflammation in the several muscles.

Exercise attenuates polyglutamine-mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy.

Background: Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by the expansion of trinucleotide cytosine-adenine-guanine (CAG) repeats, which encodes a polyglutamine (polyQ) tract in the androgen receptor (AR) gene. Recent evidence suggests that, in addition to motor neuron degeneration, defective skeletal muscles are also the primary contributors to the pathogenesis in SBMA. While benefits of physical exercise have been suggested in SBMA, underlying mechanism remains elusive.

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Background And Objectives: Pathogenic variants in the valosin-containing protein () gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron disease, Paget disease of the bone, frontotemporal dementia, and parkinsonism termed multisystem proteinopathy. This hallmark pleiotropy makes the classification of novel variants challenging. This retrospective study describes and assesses the effect of 19 novel or nonpreviously clinically characterized variants identified in 28 patients (26 unrelated families) in the retrospective VCP International Multicenter Study.

Metabolome and transcriptome analysis on muscle of sporadic inclusion body myositis.

Objective: Sporadic inclusion body myositis (sIBM) is the most common acquired myopathy in patients older than 50 years of age. sIBM is hardly responds to any immunosuppressing theraphies, and its pathophysiology remains elusive. This study aims to explore pathogenic pathways underlying sIBM and identify novel therapeutic targets using metabolomic and transcriptomic analyses.

Clinical implication of denervation in sporadic inclusion body myositis.

Introduction: Sporadic inclusion body myositis (sIBM) is often accompanied by signs suggestive of denervation on electromyography (EMG), which mimics neurogenic disorders. Hence, the current study aimed to assess reinnervation after denervation in sIBM and its clinical impllcation.

Methods: We retrospectively examined consecutive muscle biopsy specimens collected from 109 sIBM patients who were referred to our institution for diagnostic muscle biopsy from 2001 to 2018.

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.

Sleep fragmentation and working memory in healthy adults.

Introduction: Sleep is essential for performing cognitive function in humans. We have hypothesized that sleep fragmentation compared to sleep efficiency may have a negative impact on the working memory.

Material And Methods: Twenty-eight healthy adults (18 males and 10 females; mean age 27.

Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.

Nemaline myopathy (NM) is a rare muscle disease with various clinical types. In some cases, NM can lead to type 2 respiratory failure and right heart failure. We herein report a patient with congenital NM with nebulin gene mutation who presented with acute right heart failure and type 2 respiratory failure due to respiratory muscle paralysis after upper respiratory tract infection, needing a permanent ventilator for assistance.

Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability.

Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders, and patients often present with autism spectrum disorder (ASD). We herein report a case of DMD accompanied by ASD that was successfully treated with aripiprazole, an atypical antipsychotic that has been used for treating irritability in child and early adolescent patients with ASD. The patient was diagnosed as having DMD at 3 years of age.

Effects of long sleep time and irregular sleep-wake rhythm on cognitive function in older people.

Sleep disturbances and cognitive decline are common in older adults. We aimed to investigate the effects of the total sleep time (TST) and sleep-wake rhythm on executive function and working memory in older adults. In 63 older participants, we measured the TST, wake after sleep onset (WASO), and sleep timing (midpoint between bedtime and wake-up time) using actigraphy.

[Fifity years after the identification of the cause of SMON].

SMON (subacute myelo-optico-neuropathy) is toxic neurological disease which had a profound impact on the population in Japan in 1960's. The clinical characteristics of SMON includes an ascending sensory disturbance, spasticity, and visual impairment typically following abdominal symptoms. Infection was first suspected as an underlying cause of this epidemic.

Clinical indication of nasal surgery for the CPAP intolerance in obstructive sleep apnea with nasal obstruction.

Objective: The role of isolated nasal surgery for obstructive sleep apnea (OSA) patients with nasal obstruction, especially for an intolerance for continuous positive airway pressure (CPAP), is unclear. The aim of this study was to assess the effects of surgery for OSA patients with symptomatic nasal obstruction and CPAP intolerance.

Method: Retrospectve comparative study.

Very low frequency component of heart rate variability as a marker for therapeutic efficacy in patients with obstructive sleep apnea: Preliminary study.

Background: Although positive airway pressure (PAP) therapy is effective for treating obstructive sleep apnea (OSA), some patients with severe OSA are intolerable to this treatment, which may lead to an increase in the mortality and morbidity of cardiovascular diseases. We investigated the relationship between heart rate variability (HRV) and sleep parameters during natural sleep and treatment of patients with OSA.

Materials And Methods: This was the cross-sectional observation study.

Relationship between Pain and Functional Status in Patients with Amyotrophic Lateral Sclerosis: A Multicenter Cross-Sectional Study.

Background: Pain is a widely neglected symptom in patients with amyotrophic lateral sclerosis (ALS), even though it may be common and have a significant impact on the quality of life.

Objective: The aim of this study was to determine the frequency and characteristics of pain and its treatment in ALS patients.

Design: A multicenter cross-sectional study.

Tongue strength in patients with subacute myelo-optico-neuropathy.

Subacute myelo-optico-neuropathy (SMON) is a neurodegenerative disease that may be caused by overdose or prolonged oral administration of clioquinol. Recently, dysphagia has attracted attention as a complication of SMON. To investigate lingual control in SMON, we examined patients with SMON using assessments of maximum tongue pressure, compared with dysphagia-related diseases, such as sporadic inclusion body myositis (sIBM) and amyotrophic lateral sclerosis (ALS), and healthy volunteer.

[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.

Impact of UGT1A1 gene polymorphisms on plasma dolutegravir trough concentrations and neuropsychiatric adverse events in Japanese individuals infected with HIV-1.

Background: Dolutegravir (DTG) is metabolized mainly by uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1), and partly by cytochrome P450 3A (CYP3A). Therefore, we focused on UGT1A1 gene polymorphisms (*6 and *28) in Japanese individuals infected with human immunodeficiency virus (HIV)-1 to examine the relationship between their plasma trough concentration of DTG and gene polymorphisms. Recently, neuropsychiatric adverse events (NP-AEs) after the use of DTG have become a concern, so the association between UGT1A1 gene polymorphisms and selected NP-AEs was also investigated.

The comparison of nasal surgery and CPAP on daytime sleepiness in patients with OSAS.

Objective: Residual sleepiness after continuous positive airway pressure (CPAP) is a critical problem in some patients with obstructive sleep apnea syndrome (OSAS). However, nasal surgery is likely to reduce daytime sleepiness and feelings of unrefreshed sleep. The aim of this study is to clarify the effects of nasal surgery and CPAP on daytime sleepiness.

Influence of sleep duration on cortical oxygenation in elderly individuals.

Aim: Short sleep duration is a risk factor for cardiovascular diseases. Cerebral blood flow and its regulation are affected by pathological conditions commonly observed in the elderly population, such as dementia, atherosclerosis, diabetes mellitus (DM), stroke, and hypertension. The purpose of this study was to examine the influence of sleep duration on cortical oxygenated hemoglobin (OxyHb) using near-infrared spectroscopy (NIRS).

[SMON: toxicity of clioquinol and the status quo].

Subacute myelo-optico-neuropathy (SMON) is a disease characterized by subacute onset of sensory and motor disorders in the lower half of the body and visual impairment preceded by abdominal symptoms. A large number of SMON were observed throughout Japan, and the total number of cases reached nearly 10,000 by 1970. Despite clinical features mimicking infection or multiple sclerosis, SMON was confirmed as being caused by ingestion of clioquinol, an intestinal antibacterial drug, based on extensive epidemiological studies.

[Evaluation of neurological symptoms related to hip fracture in a 29-year longitudinal study of subacute myelo-optic-neuropathy (SMON)].

Aim: Hip fracture in elderly people is a major risk factor in the deterioration of activities of daily living (ADL). The aim of this study was to investigate the incidence of hip fractures and the neurological symptoms contributing to hip fracture in patients with subacute myelo-optic-neuropathy (SMON), a drug-induced neurological disease manifesting various symptoms.

Methods: We investigated the incidence of hip fracture in 3,269 SMON patients with 24,187 medical check-ups from 1979 through 2007 by the SMON Research Committee in Japan.