Direct observation of the high magnetic field effect on the Jahn-Teller state in TbVO4

We report the first direct observation of the influence of high magnetic fields on the Jahn-Teller (JT) transition in TbVO4. Contrary to spectroscopic and magnetic methods, X-ray diffraction directly measures the JT distortion; the splitting between the (311)/(131) and (202)/(022) pairs of Bragg reflections is proportional to the order parameter. Our experimental results are compared to mean field calculations, taking into account all possible orientations of the grains relative to the applied field, and qualitative agreement is obtained.Comment: 11 pages, 4 figures, submitted to Phys. Rev. Let

Challenges in Collaborative HRI for Remote Robot Teams

Collaboration between human supervisors and remote teams of robots is highly challenging, particularly in high-stakes, distant, hazardous locations, such as off-shore energy platforms. In order for these teams of robots to truly be beneficial, they need to be trusted to operate autonomously, performing tasks such as inspection and emergency response, thus reducing the number of personnel placed in harm's way. As remote robots are generally trusted less than robots in close-proximity, we present a solution to instil trust in the operator through a `mediator robot' that can exhibit social skills, alongside sophisticated visualisation techniques. In this position paper, we present general challenges and then take a closer look at one challenge in particular, discussing an initial study, which investigates the relationship between the level of control the supervisor hands over to the mediator robot and how this affects their trust. We show that the supervisor is more likely to have higher trust overall if their initial experience involves handing over control of the emergency situation to the robotic assistant. We discuss this result, here, as well as other challenges and interaction techniques for human-robot collaboration.Comment: 9 pages. Peer reviewed position paper accepted in the CHI 2019 Workshop: The Challenges of Working on Social Robots that Collaborate with People (SIRCHI2019), ACM CHI Conference on Human Factors in Computing Systems, May 2019, Glasgow, U

Rapid export of waters formed by convection near the Irminger Sea's western boundary

The standard view of the overturning circulation emphasizes the role of convection, yet for waters to contribute to overturning, they must not only be transformed to higher densities but also exported equatorward. From novel mooring observations in the Irminger Sea (2014–2016), we describe two water masses that are formed by convection and show that they have different rates of export in the western boundary current. Upper Irminger Sea Intermediate Water appears to form near the boundary current and is exported rapidly within 3 months of its formation. Deep Irminger Sea Intermediate Water forms in the basin interior and is exported on longer time scales. The subduction of these waters into the boundary current is consistent with an eddy transport mechanism. Our results suggest that light intermediate waters can contribute to overturning as much as waters formed by deeper convection and that the export time scales of both project onto overturning variability. Plain Language Summary The deep ocean can regulate the Earth's climate by storing carbon and heat. At high latitudes, waters are cooled by the atmosphere and sink, but they can only be successfully stored in the deep ocean if they are exported toward the equator. In this study, we analyze new mooring observations in the Irminger Sea to investigate the cooling and export of high‐latitude waters. In addition to the well‐documented waters that are cooled in the center of the Irminger Sea, we find that saltier waters are cooled near the western boundary current. Both of these water types make it into boundary current and are exported. Our observations are consistent with the dynamics of swirling eddy motions. The eddy transport process is more effective for the waters cooled near the boundary current, implying that cooling near boundary currents may be more important for the climate than has been appreciated to date

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2

OBJECTIVES: Primary familial brain calcification (PFBC) is a rare neurological disease often inherited as a dominant trait. Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC. Of these, point mutations or small deletions in SLC20A2 are most common. Thus far, only one large deletion covering entire SLC20A2 and several smaller, exonic deletions of SLC20A2 have been reported. The aim of this study was to identify the causative gene defect in a Finnish PFBC family with three affected patients. MATERIALS AND METHODS: A Finnish family with three PFBC patients and five unaffected subjects was studied. Sanger sequencing was used to exclude mutations in the coding and splice site regions of SLC20A2, PDGFRB, and PDGFB. Whole-exome (WES) and whole-genome sequencing (WGS) were performed to identify the causative mutation. A SNP array was used in segregation analysis. RESULTS: Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes. CONCLUSIONS: Our results support haploinsufficiency of SLC20A2 as a pathogenetic mechanism in PFBC. Analysis of copy number variations (CNVs) is emerging as a crucial step in the molecular genetic diagnostics of PFBC, and it should not be limited to coding regions, as causative variants may reside in the noncoding parts of known disease-associated genes

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4

Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3′-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

‘Microtubule-associated protein tau’ (MAPT), ‘granulin’ (GRN) and ‘chromosome 9 open reading frame72’ (C9ORF72) gene mutations are the major known genetic causes of frontotemporal dementia (FTD). Recent studies suggest that mutations in these genes may also be associated with other forms of dementia. Therefore we investigated whether MAPT, GRN and C9ORF72 gene mutations are major contributors to dementia in a random, unselected Turkish cohort of dementia patients. A combination of whole-exome sequencing, Sanger sequencing and fragment analysis/Southern blot was performed in order to identify pathogenic mutations and novel variants in these genes as well as other FTD-related genes such as the ‘charged multivesicular body protein 2B’ (CHMP2B), the ‘FUS RNA binding protein’ (FUS), the ‘TAR DNA binding protein’ (TARDBP), the ‘sequestosome1’ (SQSTM1), and the ‘valosin containing protein’ (VCP). We determined one pathogenic MAPT mutation (c.1906C>T, p.P636L) and one novel missense variant (c.38A>G, p.D13G). In GRN we identified a probably pathogenic TGAG deletion in the splice donor site of exon 6. Three patients were found to carry the GGGGCC expansions in the non-coding region of the C9ORF72 gene. In summary, a complete screening for mutations in MAPT, GRN and C9ORF72 genes revealed a frequency of 5.4% of pathogenic mutations in a random cohort of 93 Turkish index patients with dementia

Understanding the unusual reorganization of the nanostructure of a dark conglomerate phase

The dark conglomerate (DC) phase exhibited by a bent-core liquid crystal shows remarkable properties including an electric-field tunable chiral domain structure and a large (0.045) reduction of refractive index, while maintaining an optically dark texture when observed under crossed polarizers. A detailed investigation of the system is presented, leading to a model that is fully consistent with the experimental observations. It reports the observation of two distinct regimes in the DC phase: a higher temperature regime in which the periodicity measured by small angle x-ray scattering decreases slightly (0.5%) and a lower temperature regime where it increases considerably (16%). Also, the paper discusses the unusual electric-field-induced transformations observed in both the regimes. These changes have threshold fields that are both temperature and frequency dependent, though the phenomena are observed irrespective of device thickness, geometry, and the alignment layer. The electro-optic behavior in the DC phase corresponds to a number of structural changes leading to unusual changes in physical properties including a small (1%) increase in periodicity and a doubling of the average dielectric permittivity. We propose a model of the DC phase where in the ground state the nanostructure of the phase exhibits an anticlinic antiferroelectric organization. Under an electric field, it undergoes a molecular rearrangement without any gross structural changes leading to an anticlinic ferroelectric order while keeping the overall sponge-like structure of the DC phase intact