In-Depth Serum Proteomics by DIA-MS with In Silico Spectral Libraries Reveals Dynamics during the Active Phase of Systemic Juvenile Idiopathic Arthritis.

In serum proteomics using mass spectrometry, the number of detectable proteins is reduced due to high-abundance proteins, such as albumin. However, recently developed data-independent acquisition mass spectrometry (DIA-MS) proteomics technology has made it possible to remarkably improve the number of proteins in a serum analysis by removing high-abundance proteins. Using this technology, we analyzed sera from patients with systemic juvenile idiopathic arthritis (sJIA), a rare pediatric disease. As a result, we identified 2727 proteins with a wide dynamic range derived from various tissue leakages. We also selected 591 proteins that differed significantly in their active phases. These proteins were involved in many inflammatory processes, and we also identified immunoproteasomes, which were not previously found in serum, suggesting that they may be involved in the pathogenesis of sJIA. A detailed high-depth DIA-MS proteomic analysis of serum may be useful for understanding the pathogenesis of sJIA and may provide clues for the development of new biomarkers.

A three-generation Muckle-Wells syndrome family: Detailed family history, physical examination, and inter-departmental collaboration.

Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disease caused by gain-of-function mutations in the NLRP3 gene, with a genotype-phenotype correlation. The clinical presentation of each mutation has been previously studied. However, very few studies have reported on the clinical characteristics and treatment effectiveness across different generations within a family with the same mutation. A detailed investigation of family members of patients with CAPS may help in the appropriate diagnosis and treatment of undiagnosed CAPS. Herein, we report a 2-year-old boy (proband), his father, and his grandmother who presented with several symptoms of CAPS, such as persistently positive inflammatory reactions and hearing impairment. All three patients had the same pathogenic mutation in the NLRP3 gene (c.1049C > T (p.Thr350Met) heterozygous mutation) and were diagnosed with CAPS. With canakinumab treatment, the laboratory data of all three patients improved, the proband and father's skin rash disappeared, and his grandmother's arthropathy improved. The proband's hearing also showed slight improvement but not in his father or grandmother. Among the various non-specific symptoms associated with CAPS, chronic ocular hyperaemia is a finding that can be easily identified by non-ophthalmologists. Diagnosis of CAPS should be considered when eye symptoms are present in a combination of hyperinflammatory response, arthropathy, or skin symptoms. Thorough family history records, physical examinations, and close collaboration between paediatricians and adult rheumatologists are important for prompt diagnosis and appropriate treatment of inherited autoinflammatory diseases.

Short-term and long-term effects of a self-managed physical activity program using a pedometer for chronic respiratory disease: a randomized controlled trial.

[Purpose] The aim of this study was to evaluate the effects of a self-managed physical activity program using a pedometer and diary on physical function, ADL, and QOL in patients with chronic respiratory disease. [Subjects and Methods] 17 outpatients with chronic respiratory disease were assessed for dyspnea, muscle strength, exercise tolerance, ADL, and QOL at baseline, after 3-, and 6-months after the start of the program. Patients were randomly assigned to "Control" or "Diary" group. In the Diary group, the number of steps was counted with a pedometer and recorded in a diary together with self-evaluation of physical activity, while patients assigned to the Control group did not use a pedometer or keep a diary. [Results] The Diary group showed significant improvement in the daily step count over time. The Diary group showed significant improvement of the dyspnea, muscle strength, and exercise tolerance at 3 months, dyspnea and muscle strength at 6 months. Significant differences found between two groups with regard to the extent of change in the muscle strength, exercise tolerance, and QOL at 3 months. [Conclusion] This study suggests that a self-managed physical activity program using a pedometer and diary can increase the level of physical activity.

Effect of 12-month rehabilitation with low loading program on chronic respiratory disease.

[Purpose] The purpose of this study was to examine the effect of 12-month rehabilitation with low loading program on chronic respiratory disease. [Subjects and Methods] Twelve patients with chronic respiratory disease participated in this study, in which the effect of long-term rehabilitation for 12 months was assessed. Nine patients had chronic obstructive pulmonary disease, two had asthma, and one had interstitial pneumonia. In all patients, symptoms, lower-extremity strength, walking distance, activities of daily living, and quality of life were investigated to examine the effect of respiratory rehabilitation. [Results] After 12 months, the isometric knee extension strength and weight-bearing index both showed a significant increase. [Conclusion] The findings of this study suggested that improvement in lower-limb muscle strength can be achieved through long-term intervention, and indicated the validity of repetitive standing and walking exercises.