Reconstructive Platform for Local Communities Damaged by Nuclear Disaster: A Proposal

AbstractThis paper aims to propose accumulation of information of the affected area by using ICT for reconstruction of the affected communities by the nuclear plant disaster. Such information is accumulated from local governments and inhabitants of towns in the evacuated zone. Goal of the platform proposed herein is to combine information retained by the local governments and memories retained by the inhabitants, and to create environment similar to actual towns in virtual world. Accumulation method of memories is discussed with consideration of results of the inhabitants’ survey and based on cognitive psychology theory. Specifically, accumulation of individuals’ memories is emphasized, and application of life log and social graph is proposed. Accumulating information and memories help create documents for local governments’ recovery planning and good educational materials to evoke memories of the separated inhabitants. It is indicated that by the separated inhabitants learning the accumulated digital archives, identity can be formed

Development of a Vertex Finding Algorithm using Recurrent Neural Network

Deep learning is a rapidly-evolving technology with possibility to significantly improve physics reach of collider experiments. In this study we developed a novel algorithm of vertex finding for future lepton colliders such as the International Linear Collider. We deploy two networks; one is simple fully-connected layers to look for vertex seeds from track pairs, and the other is a customized Recurrent Neural Network with an attention mechanism and an encoder-decoder structure to associate tracks to the vertex seeds. The performance of the vertex finder is compared with the standard ILC reconstruction algorithm.Comment: 8 pages, 8 figures, preliminary version currently under review by IL

VENTRICULAR ENLARGEMENT AND WATER INTOXICATION IN SCHIZOPHRENIA

To determine the extent to which atrophy was related to water intoxication in schizophrenic patients, ventricular enlargement in polydipsic schizophrenic patients with hyponatremia and schizophrenic controls without hyponatremia was measured in a linear way. Ventricular enlargement was found in both schizophrenic patient groups, and larger ventricles were associated with water intoxication. It is suggested that ventricular enlargement may reflect a developmental or degenerative pathological process involving the occurrence of water intoxication in schizophrenia

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases

Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge. We aimed to identify pathogenic or likely pathogenic variants in CCSD patients by using WES and 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines as well as evaluating the usefulness of functional studies for determining them. Methods and Results We performed WES of 23 probands diagnosed with early-onset (<65 years) CCSD and analyzed 117 genes linked to arrhythmogenic diseases or cardiomyopathies. We focused on rare variants (minor allele frequency < 0.1%) that were absent from population databases. Five probands had protein truncating variants in EMD and LMNA which were classified as “pathogenic” by 2015 ACMG standards and guidelines. To evaluate the functional changes brought about by these variants, we generated a knock-out zebrafish with CRISPR-mediated insertions or deletions of the EMD or LMNA homologs in zebrafish. The mean heart rate and conduction velocities in the CRISPR/Cas9-injected embryos and F2 generation embryos with homozygous deletions were significantly decreased. Twenty-one variants of uncertain significance were identified in 11 probands. Cellular electrophysiological study and in vivo zebrafish cardiac assay showed that 2 variants in KCNH2 and SCN5A, 4 variants in SCN10A, and 1 variant in MYH6 damaged each gene, which resulted in the change of the clinical significance of them from “Uncertain significance” to “Likely pathogenic” in 6 probands. Conclusions Of 23 CCSD probands, we successfully identified pathogenic or likely pathogenic variants in 11 probands (48%). Functional analyses of a cellular electrophysiological study and in vivo zebrafish cardiac assay might be useful for determining the pathogenicity of rare variants in patients with CCSD. SCN10A may be one of the major genes responsible for CCSD. Translational Perspective Whole-exome sequencing (WES) may be helpful in determining the causes of cardiac conduction system disease (CCSD), however, the identification of pathogenic variants remains a challenge. We performed WES of 23 probands diagnosed with early-onset CCSD, and identified 12 pathogenic or likely pathogenic variants in 11 of these probands (48%) according to the 2015 ACMG standards and guidelines. In this context, functional analyses of a cellular electrophysiological study and in vivo zebrafish cardiac assay might be useful for determining the pathogenicity of rare variants, and SCN10A may be one of the major development factors in CCSD

The Structural Abnormalities Are Deeply Involved in the Cause of <i>RPGRIP1</i>-Related Retinal Dystrophy in Japanese Patients

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5–6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with biallelic pathogenic variants of RPGRIP1. In addition to five previously reported cases, we identified five cases from four families with compound heterozygous RPGRIP1 variants using WGS. Five patients had null variants comprising frameshift variants, an Alu insertion, and microdeletions. A previously reported 1339 bp deletion involving exon 18 was found in four cases, and the deletion was relatively prevalent in the Japanese population (allele frequency: 0.002). Microdeletions involving exon 1 were detected in four cases. In patients with RPGRIP1 variants, visual acuity remained low, ranging from light perception to 0.2, and showed no correlation with age. In optical coherence tomography images, the ellipsoid zone (EZ) length decreased with age in all but one case of unimpaired EZ. The retinal structure was relatively preserved in all cases; however, there were cases with great differences in visual function compared to their siblings and a 56-year-old patient who still had a faint EZ line. Structural abnormalities may be important genetic causes of RPGRIP1-related retinal dystrophy in Japanese patients, and WGS was useful for detecting them