Factors associated with psychological distress in patients with amyotrophic lateral sclerosis: A retrospective medical records study.

Objective: Although psychological distress is a prevalent issue among patients with amyotrophic lateral sclerosis (ALS) and can impact survival, the risk factors contributing to this distress remain insufficiently understood.

Methods: Patients with ALS who completed the Profile of Mood States (POMS) between June 2017 and March 2022 were included. Participants with moderate to severe cognitive decline were excluded, resulting in the recruitment of 121 patients.

Pharmacokinetics of Edaravone Oral Suspension in Patients With Amyotrophic Lateral Sclerosis.

Purpose: Edaravone is a neuroprotective agent approved as an intravenous treatment for amyotrophic lateral sclerosis (ALS). The intravenous administration of edaravone places a burden on patients and there is a clinical need for oral agents for the treatment of ALS. This report aimed to assess the pharmacokinetics and safety of an edaravone oral suspension in patients with ALS after oral and percutaneous endoscopic gastrostomy (PEG) tube administration.

Propagation of Diffusion-Weighted MRI Abnormalities in the Preclinical Stage of Sporadic Creutzfeldt-Jakob Disease.

Objectives: Currently, no established biomarkers exist for presymptomatic sporadic Creutzfeldt-Jakob disease (sCJD). The purpose of this study was to raise awareness about sCJD cases showing abnormalities on brain MRI diffusion-weighted imaging (DWI) before symptom onset and demonstrate temporal changes in DWI abnormalities during the preclinical period.

Methods: We described the clinical presentation including the results of MRI-performed multiple times in the preclinical period-and the diagnostic workup of a middle-aged man with sCJD.

Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case.

Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in the cells of the visceral organs as well as central, peripheral, and autonomic nervous system cells. Recently, a GGC repeat expansion in the NOTCH2NLC gene has been identified as the etiopathological agent of NIID.

Marked Respiratory Failure in an Ambulant Patient with Immune-mediated Necrotizing Myopathy and Anti-Kv1.4 and Anti-titin Antibodies.

We herein report a case of seronegative immune-mediated necrotizing myopathy (IMNM) concurrent with anti-Kv1.4 and anti-titin antibodies. A 72-year-old Japanese woman presented with a 29-year history of fluctuating high serum creatine kinase (CK) levels followed by intermittent ptosis and respiratory muscle weakness.

5-aminosalicylate-intolerant patients are at increased risk of colectomy for ulcerative colitis.

Background: Although 5-aminosalicylate (5-ASA) is the therapy of first choice in ulcerative colitis (UC), some patients cannot tolerate it because of side effects. Previous reports have not investigated whether 5-ASA intolerance is associated with the risk of colectomy.

Aim: To investigate the associations between 5-ASA tolerance and colectomy among UC patients METHODS: The data of UC patients who visited any of three hospitals during 2014-2018 in and around Tokyo, Japan, were retrospectively obtained from the medical records.

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

To date, >100 mutations in NKX2-1 have been described. Most NKX2-1 mutations are assumed to result in brain-lung-thyroid syndrome through haploinsufficiency, and only five NKX2-1 mutations with dominant-negative effects have been reported so far. In this case report, an additional patient with brain-lung-thyroid syndrome is reported, carrying a novel heterozygous mutation, c.

Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens.

Mondini dysplasia is rare, but has an important association with recurrent bacterial meningitis. We herein describe the case of a 3-year-old girl with unilateral sensorineural hearing loss who presented with three independent episodes of bacterial meningitis within 8 months. Temporal bone computed tomography indicated the characteristic features of Mondini dysplasia in the right inner ear.

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.

Markedly reduced axonal potassium channel expression in human sporadic amyotrophic lateral sclerosis: an immunohistochemical study.

Fasciculations are characteristic features of amyotrophic lateral sclerosis (ALS), suggesting abnormally increased excitability of motor axons. Previous nerve excitability studies have shown reduced axonal potassium currents in ALS patients that may contribute to the hyperexcitability and thereby generation of fasciculations. To clarify changes in axonal ion channel expression in motor axons of ALS, we performed immunohistochemistry of potassium and sodium channels in the C7 and L5 ventral/dorsal roots obtained from five autopsy cases of sporadic ALS.

Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene.

Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full-term female baby was delivered by a mother who experienced two spontaneous abortions.

Astrocytic tau pathology positively correlates with neurofibrillary tangle density in progressive supranuclear palsy.

Tufted astrocytes (TAs) are considered reliable, specific markers for the neuropathologic diagnosis of progressive supranuclear palsy (PSP). It is known that neurofibrillary tangles (NFTs) may relate directly to neurodegeneration, but the role of glial tau pathology is not well determined. To examine the hypothesis that TAs are as pathogenic as NFTs and that both might have a common accumulation, we evaluated the topographic relationship between TAs and NFTs in 12 cases of PSP.

Photosensitized DNA damage induced by NADH: site specificity and mechanism.

Increasing evidence reveals the carcinogenicity of UVA radiation. We demonstrated that UVA-irradiated NADH induced damage to (32)P-labeled DNA fragments obtained from the p53 gene in the presence of Cu(II). Formamidopyrimidine glycosylase (Fpg)-sensitive lesions were formed at guanine residues, whereas piperidine-labile lesions occurred frequently at thymine residues.

Photosensitized DNA damage and its protection via a novel mechanism.

UVA, which accounts for approximately 95% of solar UV radiation, can cause mutations and skin cancer. Based mainly on the results of our study, this paper summarizes the mechanisms of UVA-induced DNA damage in the presence of various photosensitizers, and also proposes a new mechanism for its chemoprevention. UVA radiation induces DNA damage at the 5'-G of 5'-GG-3' sequence in double-stranded DNA through Type I mechanism, which involves electron transfer from guanine to activated photosensitizers.

Mechanism of site-specific DNA damage induced by ozone.

Ozone has been shown to induce lung tumors in mice. The reactivity of ozone with DNA in an aqueous solution was investigated by a DNA sequencing technique using 32P-labeled DNA fragments. Ozone induced cleavages in the deoxyribose-phosphate backbone of double-stranded DNA, which were reduced by hydroxyl radical scavengers, suggesting the participation of hydroxyl radicals in the cleavages.

[Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene].

We reported different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis (FALS) showing Cys146Arg point mutation of superoxide dismutase 1 (SOD1) gene. They showed differences in disease onset of age, progression and severity. The propositus, a 50-year old woman, had muscle wasting and weakness in right lower leg with dysesthesia at the onset, which showed slow progression without other neurological symptoms until 2 years after the onset when bulbar palsy appeared.