Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.

To improve imputation quality for genome-wide association studies (GWAS) conducted on the Japanese population, we developed and evaluated four Japanese population-specific reference panels. These panels were constructed through the augmentation of the 1000 Genomes Project (1KG) panel using Japanese whole genome sequencing (WGS) data, with sample sizes ranging from 1 K to 7 K individuals enrolled through the Biobank Japan (BBJ) project, and sequencing depths ranging from 3× to 30×. Among these panels, an augmented reference panel comprising 7472 WGS samples of mixed depth (1KG+7K) exhibit the greatest improvement in imputation quality relative to the Trans-Omics for Precision Medicine (TOPMed) reference panel.

Doping control analyses during the Tokyo 2020 Olympic and Paralympic Games.

The doping control analyses at the XXXII Olympic Games (July 23 to August 8, 2021) and the XVI Paralympic Games (August 24 to September 5, 2021) held in Tokyo, Japan, after a year of delay due to the COVID-19 pandemic are summarized in this paper. A new satellite facility at the existing World Anti-Doping Agency (WADA)-accredited Tokyo laboratory was established and fully operated by 278 staff, including 33 Tokyo laboratory staff, 49 international experts, and 196 Japanese temporary staff. The numbers of urine samples were 5081 (Olympics) and 1519 (Paralympics), and the numbers of blood samples were 1103 (Olympics) and 500 (Paralympics).

Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.

Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carriers of pathogenic variants in , the cause of autosomal recessive RP, was unexpectedly high in Japanese patients with unsolved RP. This result suggested that causative genetic variants, which are difficult to detect by short-read sequencing, exist in such patients.

Detection of muscle activity with forearm pronation exercise using T-map MRI.

[Purpose] We aimed to detect muscle activity during a forearm pronation exercise using a 0.2 T MRI system. [Participants and Methods] We recruited healthy adult volunteers (7 males, 4 females).

The outcomes of transanal endorectal pull-through for Hirschsprung's disease according to the mucosectomy-commencing points: A study based on the results of a nationwide survey in Japan.

Background/aim: Although the mucosectomy-commencing points on transanal endorectal pull-through (TAEPT) differ among reports, the optimal point is unclear. This study assessed the outcomes among different mucosectomy-commencing points.

Methods: We conducted a nationwide survey from 2008 to 2012.

Nationwide survey of outcome in patients with extensive aganglionosis in Japan.

Purpose: Hirschsprung's disease-related short bowel syndrome (HDSBS) is characterized by aganglionosis that extends orally to 75 cm from Treitz's band. The condition is reported be associated with a high mortality rate of 50-80%. This retrospective study aimed to survey the current trends in HDSBS treatment in Japan.

T Distribution in the Forearm Muscles and the T Threshold for Defining Activated Muscle.

Purpose: In order to detect exercised muscles by the increase in T, we have defined a Gaussian T distribution and reference values (T and SD) in resting state muscles, and a threshold for detecting exercised muscles.

Methods: The subjects were healthy adult volunteers (14 males and 12 females). Multiple-spin-echo (MSE) MR images were obtained with 10 TE values from 10 to 100 ms using a 0.

Changes in T-weighted MRI of supinator muscle, pronator teres muscle, and extensor indicis muscle with manual muscle testing.

[Purpose] In order to detect muscle activity with manual muscle testing, T-weighted magnetic resonance (T-MR) images were detected by a 0.2 T compact MRI system. [Subjects and Methods] The subjects were 3 adult males.

Low-intensity resistance training with blood flow restriction improves vascular endothelial function and peripheral blood circulation in healthy elderly people.

Purpose: The present study aimed to investigate the effects of low-intensity resistance training with blood flow restriction (BFR resistance training) on vascular endothelial function and peripheral blood circulation.

Methods: Forty healthy elderly volunteers aged 71 ± 4 years were divided into two training groups. Twenty subjects performed BFR resistance training (BFR group), and the remaining 20 performed ordinary resistance training without BFR.

Effect of exposure and sensitization to indoor allergens on asthma control level.

Background: Reducing risk factors, such as exposure to allergens, and stepwise pharmacotherapy to achieve and maintain control of asthma are the mainstay of asthma care. The purpose of this study was to clarify the effect of exposure and sensitization to indoor allergens, including house dust mites, cats, and dogs, on the asthma control level.

Methods: Dust samples were collected from the mattresses of 101 adult asthma patient homes and the Dermatophagoides mite group 1 (Der 1), Fel d 1, and Can f 1 concentrations were measured using ELISA.

Identification of a New Series of STAT3 Inhibitors by Virtual Screening.

The signal transducer and activator of transcription 3 (STAT3) is considered to be an attractive therapeutic target for oncology drug development. We identified a N-[2-(1,3,4-oxadiazolyl)]-4-quinolinecarboxamide derivative, STX-0119, as a novel STAT3 dimerization inhibitor by a virtual screen using a customized version of the DOCK4 program with the crystal structure of STAT3. In addition, we used in vitro cell-based assays such as the luciferase reporter gene assay and the fluorescence resonance energy transfer-based STAT3 dimerization assay.

Dipole analysis in a case with tumor-related epilepsy.

In order to evaluate the effectiveness of presurgical dipole analysis of interictal spikes as a non-invasive technique for the determination of epileptogenic area, we compared the results of this method with those of electrocorticography (ECoG) localization in the diagnosis of a patient with tumor-related epilepsy. A preoperative MRI revealed a temporal lobe tumor on the right side. The individual dipoles estimated from the interictal spikes were located mainly in the anterolateral region of the right temporal lobe, although some were located in the mesial side.

[Efficacy of conventional CT in diagnosis of pulmonary emphysema: evaluation of low attenuation area by multiple observers].

The efficacy of conventional CT in the diagnosis of pulmonary emphysema (PE) was studied in 122 patients with miscellaneous diseases including 26 patients with PE. The density and the distribution of low attenuation area (LAA) were evaluated by six independent physicians. Analysis with kappa statistics showed a good inter-observer agreement in the detection of LAA.