GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

Purpose: To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM.

Methods: The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study.

Results: Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families).

Cylindromatosis lysine 63 deubiquitinase (CYLD) suppress TLR3-mediated CCL5 expression in human renal proximal tubular epithelial cells.

Background: One of the causes of tubulointerstitial nephritis is viral infection, with innate immune responses affecting its pathogenesis. Toll-like receptor 3 (TLR3) recognizes viral infections and acts antivirally by activating signaling to produce inflammatory cytokines/chemokines, including C-C motif chemokine ligand 5 (CCL5) and interferon-β (IFN-β). Although cylindromatosis lysine 63 deubiquitinase (CYLD) is known to be associated with tubulointerstitial nephritis and renal function, its role in the antiviral innate immune response in tubular epithelial cells remains unknown.

Safety, efficacy, and quality of life outcomes of pulsed field ablation in Japanese patients with atrial fibrillation: results from the PULSED AF trial.

Background: Pulsed field ablation (PFA), a novel treatment for atrial fibrillation (AF), has yet to be evaluated in a Japanese cohort.

Methods: In this sub-analysis of the PULSED AF trial, 12-month outcomes of paroxysmal AF (PAF) and persistent AF (PsAF) patients treated with PFA in four Japan centers were assessed. After a 90-day blanking period, primary efficacy was determined via freedom from a composite endpoint of acute procedural failure, arrhythmia recurrence, or antiarrhythmic drug escalation over 1 year.

Factors Predicting Effectiveness of Eradication Therapy for -Associated Dyspepsia Symptoms.

Functional dyspepsia is distinguishable from -associated dyspepsia. However, distinguishing -associated dyspepsia from functional dyspepsia before eradication is difficult. Therefore, in the present study, we aimed to investigate whether serum pepsinogen levels before eradication are associated with the amelioration of dyspepsia after successful eradication.

Transient hemiplegia in a patient with migraine: A case of sporadic hemiplegic migraine.

Hemiplegic migraine is a rare form of migraine characterized by aura with unilateral paralysis; however, studies on its treatment are limited. A 39-year-old man with migraine headaches and myofascial pain syndrome was referred to our hospital with transient right hemiplegia, after presenting to an outside emergency department with headache and right hemiplegia 2 days prior. Computed tomography, magnetic resonance imaging, and blood test results revealed no abnormalities.

[A Case of Appendiceal Mucinous Carcinoma with Bladder Invasion Developed from Abscess-Forming Appendicitis, Which Was Curatively Resected after Chemotherapy].

The patient was a 35-year-old man who saw his first doctor with the chief complaint of painful urination. A contrast- enhanced CT scan of the abdomen revealed a diagnosis of abscess-forming appendicitis with inflammatory spread to the bladder, and conservative treatment was decided. Since antibiotic treatment failed to reduce the size of the abscess, he underwent surgery.

Withdrawal Dyskinesia Associated With Aripiprazole in a Child: A Case Report.

Atypical antipsychotics are considered to be better tolerated than typical antipsychotics; however, the risk of drug-induced movement disorders needs to be considered. Aripiprazole, a dopamine partial agonist, is one of the most frequently used atypical antipsychotics in children. In this report, we describe withdrawal dyskinesia after aripiprazole discontinuation in a child with autism spectrum disorder.

Genetic and clinical study of in Japanese Parkinson's disease.

Background: Biallelic variants in , which encodes protein-nucleic acid deglycase DJ-1, can cause early-onset Parkinson's disease (PD). Although many patients with variants have been identified from European and Middle Eastern ethnic groups, there have been no reports in the Japanese population.

Objectives: To determine the prevalence and clinical features of patients with PD harboring variants in Japan.

Intranasal administration of trehalose reduces α-synuclein oligomers and accelerates α-synuclein aggregation.

Abnormal α-synuclein (αSyn), including an oligomeric form of αSyn, accumulates and causes neuronal dysfunction in the brains of patients with multiple system atrophy. Neuroprotective drugs that target abnormal αSyn aggregation have not been developed for the treatment of multiple system atrophy. In addition, treating diseases at an early stage is crucial to halting the progress of neuronal damage in neurodegeneration.

Evaluation of calculation accuracy and computation time in a commercial treatment planning system for accelerator-based boron neutron capture therapy.

This study aims to evaluate the feasibility of using a commercially available boron neutron capture therapy (BNCT) dose calculation program (NeuCure Dose Engine) in terms of calculation accuracy and computation time. Treatment planning was simulated under the following calculation parameters: 1.5-5.

Characteristics of sphingomyelin metabolism in the MCF7 and BT474 radiotherapy‑resistant HER2‑positive breast cancer cell lines.

Breast cancer is the most common cancer globally in terms of incidence. This cancer is classified into subtypes based on histological or immunological characteristics. HER2-positive cases account for 15-25% of breast cancer cases, and one of the first events in breast carcinogenesis is HER2 upregulation.

A case of successful treatment with repeated segmental embolization for downhill esophageal varices caused by giant goiter.

Downhill esophageal varices often develop because of venous hypertension caused by either superior vena cava obstruction or compression. We herein present a case of downhill esophageal varices caused by a giant goiter in a patient with postoperative Graves' disease. A 66-year-old man presented with an enlarged goiter.