Realization of the farad from the dc quantum Hall effect with digitally-assisted impedance bridges

A new traceability chain for the derivation of the farad from dc quantum Hall effect has been implemented at INRIM. Main components of the chain are two new coaxial transformer bridges: a resistance ratio bridge, and a quadrature bridge, both operating at 1541 Hz. The bridges are energized and controlled with a polyphase direct-digital-synthesizer, which permits to achieve both main and auxiliary equilibria in an automated way; the bridges and do not include any variable inductive divider or variable impedance box. The relative uncertainty in the realization of the farad, at the level of 1000 pF, is estimated to be 64E-9. A first verification of the realization is given by a comparison with the maintained national capacitance standard, where an agreement between measurements within their relative combined uncertainty of 420E-9 is obtained.Comment: 15 pages, 11 figures, 3 table

Corpus Callosum Microstructural Changes Correlate with Cognitive Dysfunction in Early Stages of Relapsing-Remitting Multiple Sclerosis: Axial and Radial Diffusivities Approach

The corpus callosum is the largest fiber bundle in the central nervous system and it takes part in several cognitive pathways. It can be affected by multiple sclerosis (MS) early in the disease. DTI is capable of infering the microstructural organization of the white matter. The vectorial analysis of the DTI offers the more specific indices of axial diffusivity (AD) and radial diffusivity (RD), which have shown to be useful to discriminate myelin damage from axon loss, respectively. This study presents DTI results (mean diffusivity (MD), fractional anisotropy (FA), RD, and AD) of 23 relapsing-remitting MS patients and its correlation with cognitive performance. There were 47.8% of cognitive impaired patients (MS CI). We found signs of demyelination, reflected by increased RD, and incipient axon loss, reflected by AD increase, which was slightly higher in the MS CI. The cognitive changes correlated with the DTI parameters, suggesting that loss of complexity in CC connections can impair neural conduction. Thus, cognitive impairment can be related to callosal disconnection, and DTI can be a promising tool to evaluate those changes

A Comparison of Four Probability-Based Online and Mixed-Mode Panels in Europe

Inferential statistics teach us that we need a random probability sample to infer from a sample to the general population. In online survey research, however, volunteer access panels, in which respondents self-select themselves into the sample, dominate the landscape. Such panels are attractive due to their low costs. Nevertheless, recent years have seen increasing numbers of debates about the quality, in particular about errors in the representativeness and measurement, of such panels. In this article, we describe four probability-based online and mixed-mode panels for the general population, namely, the Longitudinal Internet Studies for the Social Sciences (LISS) Panel in the Netherlands, the German Internet Panel (GIP) and the GESIS Panel in Germany, and the Longitudinal Study by Internet for the Social Sciences (ELIPSS) Panel in France. We compare them in terms of sampling strategies, offline recruitment procedures, and panel characteristics. Our aim is to provide an overview to the scientific community of the availability of such data sources to demonstrate the potential strategies for recruiting and maintaining probability-based online panels to practitioners and to direct analysts of the comparative data collected across these panels to methodological differences that may affect comparative estimates

A whole genome screen for association with multiple sclerosis in portuguese patients

Multiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n = 188) and matched controls (n = 188). Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association.SERONO (Portugal).Fundação para a Ciência e a Tecnologia (FCT) - grant FRH/BD/9111/2002.British Council/ICCTI.Wellcome Trust, Multiple Sclerosis Societies of the United States and Great Britain, Multiple Sclerosis International Federation - GAMES project - grant 057097

Response to isolated limb perfusion and chemotherapy with epirubicin plus ifosfamide in a metastatic malignant ossifying fibromyxoid tumor

Background: Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain lineage and intermediate biological potential. It is more common in middle-aged men, usually arising from the deep tissues of the extremities. It is now established that it is a translocation related tumor, most often marked by translocation of PHF1 gene. Surgery is the mainstay of treatment and proves usually curative, although, in rarer cases the disease shows malignant features and tendency to recur both locally and at distant sites. In such cases, no standard treatment exists. Case presentation: We report on a case of malignant advanced OFMT of the hand with lung metastases responding to isolated limb perfusion with human recombinant tumor necrosis factor and melphalan and chemotherapy with epirubicin and ifosfamide. Conclusions: To our knowledge, this is the first report of activity of soft tissue sarcoma-oriented chemotherapy in advanced OFMT

Experimental Characterization of RF-SQUIDs Based Josephson Traveling Wave Parametric Amplifier Exploiting Resonant Phase Matching Scheme

This study presents recent advancements in Josephson Traveling Wave Parametric Amplifiers (JTWPAs) developed and tested at Istituto Nazionale di Ricerca Metrologica within the Detector Array Readout with Traveling Wave AmplifieRS project framework. Combining Josephson junctions with superconducting coplanar waveguides, JTWPAs offer advanced capabilities for quantum-limited broadband microwave amplification and the emission of non-classical microwave radiation. The work delves into the architecture, optimization, and experimental characterization of a JTWPA with a Resonant Phase-Matching mechanism, highlighting signal gains and idler conversion factors in relation to pump power and signal frequency

Broadband Parametric Amplification in DARTWARS

Superconducting parametric amplifiers offer the capability to amplify feeble signals with extremely low levels of added noise, potentially reaching quantum-limited amplification. This characteristic makes them essential components in the realm of high-fidelity quantum computing and serves to propel advancements in the field of quantum sensing. In particular, Traveling-Wave Parametric Amplifiers (TWPAs) may be especially suitable for practical applications due to their multi-Gigahertz amplification bandwidth, a feature lacking in Josephson Parametric Amplifiers (JPAs), despite the latter being a more established technology. This paper presents recent developments of the DARTWARS (Detector Array Readout with Traveling Wave AmplifieRS) project, focusing on the latest prototypes of Kinetic Inductance TWPAs (KITWPAs). The project aims to develop a KITWPA capable of achieving 20 dB of amplification. To enhance the production yield, the first prototypes were fabricated with half the length and expected gain of the final device. In this paper, we present the results of the characterization of one of the half-length prototypes. The measurements revealed an average amplification of approximately 9 dB across a 2 GHz bandwidth for a KITWPA spanning 17 mm in length

Nonlinear Behavior of Josephson Traveling Wave Parametric Amplifiers

Recent advancements in quantum technologies and advanced detection experiments have underscored the pressing need for the detection of exceedingly weak signals within the microwave frequency spectrum. Addressing this challenge, the Josephson Traveling Wave Parametric Amplifier (JTWPA) has been proposed as a cryogenic front-end amplifier capable of approaching the quantum noise limit while providing a relevant bandwidth. This research is centered on a comprehensive numerical investigation of the JTWPA, without resorting to simplifications regarding the nonlinearity of the essential components. Specifically, this study focuses on a thorough examination of the system, characterized by coupled nonlinear differential equations representing all components of the device. Proper input and output signals at the device's boundaries are considered. The analysis of the output signals undergoing the parametric amplification process involves a detailed exploration of phase-space dynamics and Fourier spectral analysis of the output voltage. This study is conducted while considering the parameters ruling the response of the device under pump and signal excitations. In addition to the expected signal amplification, the findings reveal that the nonlinear nature of the system can give rise to unforeseen phenomena, depending on the system's operational conditions, which include: the generation of pump tone harmonics, modulation of the signal gain, and incommensurate frequency generation effects that are not easily accommodated by simplistic linearized approaches

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome.

iskott-Aldrich syndrome (WAS) is an inherited immunodeficiency caused by mutations in the gene encoding WASP, a protein regulating the cytoskeleton. Hematopoietic stem/progenitor cell (HSPC) transplants can be curative, but, when matched donors are unavailable, infusion of autologous HSPCs modified ex vivo by gene therapy is an alternative approach. We used a lentiviral vector encoding functional WASP to genetically correct HSPCs from three WAS patients and reinfused the cells after a reduced-intensity conditioning regimen. All three patients showed stable engraftment of WASP-expressing cells and improvements in platelet counts, immune functions, and clinical scores. Vector integration analyses revealed highly polyclonal and multilineage haematopoiesis resulting from the gene-corrected HSPCs. Lentiviral gene therapy did not induce selection of integrations near oncogenes, and no aberrant clonal expansion was observed after 20 to 32 months. Although extended clinical observation is required to establish long-term safety, lentiviral gene therapy represents a promising treatment for WAS

Enithelioid hemangioendothelioma, an ultra-rare cancer : a consensus paper from the community of experts

Epithelioid hemangioendothelioma (EHE) is an ultra-rare, translocated, vascular sarcoma. EHE clinical behavior is variable, ranging from that of a low-grade malignancy to that of a high-grade sarcoma and it is marked by a high propensity for systemic involvement. No active systemic agents are currently approved specifically for EHE, which is typically refractory to the antitumor drugs used in sarcomas. The degree of uncertainty in selecting the most appropriate therapy for EHE patients and the lack of guidelines on the clinical management of the disease make the adoption of new treatments inconsistent across the world, resulting in suboptimal outcomes for many EHE patients. To address the shortcoming, a global consensus meeting was organized in December 2020 under the umbrella of the European Society for Medical Oncology (ESMO) involving >80 experts from several disciplines from Europe, North America and Asia, together with a patient representative from the EHE Group, a global, disease-specific patient advocacy group, and Sarcoma Patient EuroNet (SPAEN). The meeting was aimed at defining, by consensus, evidence-based best practices for the optimal approach to primary and metastatic EHE. The consensus achieved during that meeting is the subject of the present publication.Peer reviewe