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OBJECTIVES: This study aimed to clarify the impact of the coronavirus disease 2019 outbreak on the levels of activity among older patients with frailty or underlying diseases. A total of 175 patients (79.0±7.0 years) undergoing outpatient or home-based rehabilitation, stratified into groups, based on frailty status. The percentage of patients who went out at least once a week decreased after the outbreak from 91% to 87%, from 65% to 46%, and from 47% to 36% in the non-frail, frail, and nursing care requirement groups, respectively. The proportion of older patients participating in exercise during the outbreak was 75%, 51%, and 41% in the non-frail, frail, and nursing care requirement groups, respectively. The proportion of older patients participating in voluntary exercise after instruction was lowest in the frail group (35%). Older patients with frailty are susceptible to the negative effects of refraining from physical activity and require careful management.

Background:PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2). Genotype–phenotype analysis, previously hampered by limited numbers of patients, was for the first time performed by data pooling from five large centres worldwide.Patients and methods:Members of the Histiocyte Society were asked to report cases of FHL2 on specific forms. Data were pooled in a common database and analysed.Results:The 124 patients had 63 different mutations (including 15 novel mutations): 11 nonsense, 10 frameshift, 38 missense and 4 in-frame deletions. Some mutations were found more commonly: 1122 G→A (W374X), associated with Turkish origin, in 32 patients; 50delT (L17fsX22) associated with African/African American origin, in 21 patients; and 1090-91delCT (L364fsX), in 7 Japanese patients. Flow cytometry showed that perforin expression was absent in 40, reduced in 6 and normal in 4 patients. Patients presented at a median age of 3 months (quartiles: 2, 3 and 13 months), always with fever, splenomegaly and thrombocytopenia. NK activity was absent in 36 (51%), ⩽2% in 18 (26%), 3–⩽5% in 10 (14%), >5% in 4 (6%), “reduced” in 2 (3%) (not reported, n = 54). Nonsense mutations were significantly associated with younger age at onset (p<0.001) and absent natural killer activity (p = 0.008).Conclusion:PRF1 mutations are spread over the functional domains. Specific mutations are strongly associated with Turkish, African American and Japanese ethnic groups. Later onset and residual cytotoxic function are observed in patients with at least one missense mutation.

The Belle II experiment[1] employs the root file format[2] for recording data and is investigating the use of \"index-files\" to reduce the size of data skims. These files contain pointers to the location of interesting events within the total Belle II data set and reduce the size of data skims by 2 orders of magnitude. We implement this scheme on the Belle II grid by recording the parent file metadata and the event location within the parent file. While the scheme works, it is substantially slower than a normal sequential read of standard skim files using default root file parameters. We investigate the performance of the scheme by adjusting the \"splitLevel\" and \"autoflushsize\" parameters of the root files in the parent data files.

This paper summarises the operational experience and improvements of the ATLAS hierarchical multi-tier computing infrastructure in the past year leading to taking and processing of the first collisions in 2009 and 2010. Special focus will be given to the Tier-0 which is responsible, among other things, for a prompt processing of the raw data coming from the online DAQ system and is thus a critical part of the chain. We will give an overview of the Tier-0 architecture, and improvements based on the operational experience. Emphasis will be put on the new developments, namely the Task Management System opening Tier-0 to expert users and Web 2.0 monitoring and management suite. We then overview the achieved performances with the distributed computing system, discuss observed data access patterns over the grid and describe how we used this information to improve analysis rates.

This paper covers in detail a variety of accounting tools used to monitor the utilisation of the available computational and storage resources within the ATLAS Distributed Computing during the first three years of Large Hadron Collider data taking. The Experiment Dashboard provides a set of common accounting tools that combine monitoring information originating from many different information sources; either generic or ATLAS specific. This set of tools provides quality and scalable solutions that are flexible enough to support the constantly evolving requirements of the ATLAS user community.

To evaluate the comparability and reproducibility of the carotid-femoral pulse wave velocity (PWV) measured by the newly developed device compared to that measured by the standard device and the validity of brachial-ankle PWV as a substitute of carotid-femoral PWV. We measured aortic PWV twice in 21 normotensive males by using the standard devices and the newly developed device. We also measured brachial-ankle PWV in the same subjects. There was a strong, significant correlation between aortic (carotid-femoral) PWV measured by using two different devices ( r =0.741, P =0.00012). Inter-quartile range of the differences of carotid-femoral PWV measured by Form (0.75 m/s (−0.36, 0.39)) was smaller than that by Complior (1.67 m/s (−1.03, 0.63)). There was no correlation between carotid-femoral PWV, measured by either device, and brachial ankle PWV. Our present results suggest that carotid-femoral PWV measured by using Form was comparable to, and may be more reproducible than, that measured by Complior that has been widely used as a predictable marker for cardiovascular events. Our results also suggest brachial-ankle PWV may not be a substitute for carotid-femoral PWV.

The Tokyo Tier2 center, which is located at the International Center for Elementary Particle Physics (ICEPP) in the University of Tokyo, was established as a regional analysis center in Japan for the ATLAS experiment. The official operation with WLCG was started in 2007 after the several years development since 2002. In December 2012, we have replaced almost all hardware as the third system upgrade to deal with analysis for further growing data of the ATLAS experiment. The number of CPU cores are increased by factor of two (9984 cores in total), and the performance of individual CPU core is improved by 20% according to the HEPSPEC06 benchmark test at 32bit compile mode. The score is estimated as 18.03 (SL6) per core by using Intel Xeon E5-2680 2.70 GHz. Since all worker nodes are made by 16 CPU cores configuration, we deployed 624 blade servers in total. They are connected to 6.7 PB of disk storage system with non-blocking 10 Gbps internal network backbone by using two center network switches (NetIron MLXe-32). The disk storage is made by 102 of RAID6 disk arrays (Infortrend DS S24F-G2840-4C16DO0) and served by equivalent number of 1U file servers with 8G-FC connection to maximize the file transfer throughput per storage capacity. As of February 2013, 2560 CPU cores and 2.00 PB of disk storage have already been deployed for WLCG. Currently, the remaining non-grid resources for both CPUs and disk storage are used as dedicated resources for the data analysis by the ATLAS Japan collaborators. Since all hardware in the non-grid resources are made by same architecture with Tier2 resource, they will be able to be migrated as the Tier2 extra resource on demand of the ATLAS experiment in the future. In addition to the upgrade of computing resources, we expect the improvement of connectivity on the wide area network. Thanks to the Japanese NREN (NII), another 10 Gbps trans-Pacific line from Japan to Washington will be available additionally with existing two 10 Gbps lines (Tokyo to New York and Tokyo to Los Angeles). The new line will be connected to LHCONE for the more improvement of the connectivity. In this circumstance, we are working for the further stable operation. For instance, we have newly introduced GPFS (IBM) for the non-grid disk storage, while Disk Pool Manager (DPM) are continued to be used as Tier2 disk storage from the previous system. Since the number of files stored in a DPM pool will be increased with increasing the total amount of data, the development of stable database configuration is one of the crucial issues as well as scalability. We have started some studies on the performance of asynchronous database replication so that we can take daily full backup. In this report, we would like to introduce several improvements in terms of the performances and stability of our new system and possibility of the further improvement of local I/O performance in the multi-core worker node. We also present the status of the wide area network connectivity from Japan to US and/or EU with LHCONE.

Background: Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. Objective: To examine MUNC13-4 mutations and the cytotoxic function of MUNC13-4 deficient T lymphocytes in Japanese FHL patients Methods: Mutations of MUNC13-4 and the cytotoxicity of MUNC13-4-deficient cytotoxic T lymphocytes (CTL) were analysed in 16 Japanese families with non-FHL2 subtype. Results: Five new mutations of the MUNC13-4 gene were identified in six families. The mutations were in the introns 4, 9, and 18, and exons 8 and 19. Two families had homozygous mutations, while the remaining four had compound heterozygous mutations. Cytotoxicity of MUNC13-4 deficient CTL was low compared with control CTL, but was still present. Clinically, the onset of disease tended to occur late; moreover, natural killer cell activity was not deficient in some FHL3 patients. Conclusions:MUNC13-4 mutations play a role in the development of FHL3 through a defective cytotoxic pathway.

This contribution summarizes evolution of the ATLAS Distributed Computing (ADC) Monitoring project during the LHC Run I. The ADC Monitoring targets at the three groups of customers: ADC Operations team to early identify malfunctions and escalate issues to an activity or a service expert, ATLAS national contacts and sites for the real-time monitoring and long-term measurement of the performance of the provided computing resources, and the ATLAS Management for long-term trends and accounting information about the ATLAS Distributed Computing resources. During the LHC Run I a significant development effort has been invested in standardization of the monitoring and accounting applications in order to provide extensive monitoring and accounting suite. ADC Monitoring applications separate the data layer and the visualization layer. The data layer exposes data in a predefined format. The visualization layer is designed bearing in mind visual identity of the provided graphical elements, and re-usability of the visualization bits across the different tools. A rich family of various filtering and searching options enhancing available user interfaces comes naturally with the data and visualization layer separation. With a variety of reliable monitoring data accessible through standardized interfaces, the possibility of automating actions under well defined conditions correlating multiple data sources has become feasible. In this contribution we discuss also about the automated exclusion of degraded resources and their automated recovery in various activities.

Objective:To evaluate regional and global left ventricular (LV) function and LV wall thickness (LVWT) in patients with hypertrophic cardiomyopathy (HCM).Design and setting:Observational study at the National Cardiovascular Centre and Nagoya University Hospital in Japan.Participants:Thirty-six patients with HCM and 16 patients with hypertensive LV hypertrophy (LVH).Main outcome measures:Conventional echocardiography and strain rate (SR) imaging derived from tissue Doppler imaging were performed. Systolic strain (ϵsys), peak systolic SR (SRsys), peak early diastolic SR (SRdia) and LVWT were obtained from eight LV segments. LV pressure was simultaneously recorded with a high-fidelity micromanometer.Results:The regional ϵsys and SRsys were correlated with LVWT in patients with HCM (r = 0.50, p<0.001 and r = 0.63, p<0.001, respectively) but not in patients with hypertensive LVH. The standard deviations of LVWT, ϵsys and SRsys obtained from the eight LV segments of each subject were greater for patients with HCM than for patients with hypertensive LVH. The standard deviation of LVWT was correlated with those of ϵsys and SRsys (r = 0.55, p<0.001 and r = 0.56, p<0.001, respectively). The standard deviations of LVWT, ϵsys and SRsys were correlated with tau (r = 0.35, p<0.05; r = 0.47, p<0.001; and r = 0.39, p<0.005, respectively).Conclusions:Heterogeneity of regional LV systolic function detected by SR imaging is in part attributable to heterogeneity of LVH and may be linked to impaired global LV relaxation in HCM.