Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of ...cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2 years of age) by using whole-exome sequencing in proband-parent trios. In two individuals, we identified a de novo loss-of-function mutation in CHD2 (encoding chromodomain helicase DNA binding protein 2). A third CHD2 mutation was identified in an epileptic proband of a second (stage 2) cohort. All three individuals with a CHD2 mutation had intellectual disability and fever-sensitive generalized seizures, as well as prominent myoclonic seizures starting in the second year of life or later. To explore the functional relevance of CHD2 haploinsufficiency in an in vivo model system, we knocked down chd2 in zebrafish by using targeted morpholino antisense oligomers. chd2-knockdown larvae exhibited altered locomotor activity, and the epileptic nature of this seizure-like behavior was confirmed by field-potential recordings that revealed epileptiform discharges similar to seizures in affected persons. Both altered locomotor activity and epileptiform discharges were absent in appropriate control larvae. Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.
The K¯N system at threshold is a sensitive testing ground for low energy QCD, especially for the explicit chiral symmetry breaking. Therefore, we have measured the K-series X-rays of kaonic hydrogen ...atoms at the DAΦNE electron–positron collider of Laboratori Nazionali di Frascati, and have determined the most precise values of the strong-interaction energy-level shift and width of the 1s atomic state. As X-ray detectors, we used large-area silicon drift detectors having excellent energy and timing resolution, which were developed especially for the SIDDHARTA experiment. The shift and width were determined to be ϵ1s=−283±36(stat)±6(syst) eV and Γ1s=541±89(stat)±22(syst) eV, respectively. The new values will provide vital constraints on the theoretical description of the low-energy K¯N interaction.
Quebec is one of the Canadian provinces with the highest rates of cancer incidence and prevalence. A study by the Rossy Cancer Network (RCN) of McGill university assessed six aspects of the patient ...experience among cancer patients and found that emotional support is the aspect most lacking. To improve this support, trained patient advisors (PAs) can be included as full-fledged members of the healthcare team, given that PA can rely on their knowledge with experiencing the disease and from using health and social care services to accompany cancer patients, they could help to round out the health and social care services offer in oncology. However, the feasibility of integrating PAs in clinical oncology teams has not been studied. In this multisite study, we will explore how to integrate PAs in clinical oncology teams and, under what conditions this can be successfully done. We aim to better understand effects of this PA intervention on patients, on the PAs themselves, the health and social care team, the administrators, and on the organization of services and to identify associated ethical and legal issues.
We will conduct six mixed methods longitudinal case studies. Qualitative data will be used to study the integration of the PAs into clinical oncology teams and to identify the factors that are facilitators and inhibitors of the process, the associated ethical and legal issues, and the challenges that the PAs experience. Quantitative data will be used to assess effects on patients, PAs and team members, if any, of the PA intervention. The results will be used to support oncology programs in the integration of PAs into their healthcare teams and to design a future randomized pragmatic trial to evaluate the impact of PAs as full-fledged members of clinical oncology teams on cancer patients' experience of emotional support throughout their care trajectory.
This study will be the first to integrate PAs as full-fledged members of the clinical oncology team and to assess possible clinical and organizational level effects. Given the unique role of PAs, this study will complement the body of research on peer support and patient navigation. An additional innovative aspect of this study will be consideration of the ethical and legal issues at stake and how to address them in the health care organizations.
We present a new measurement of the Λ4H hypernuclear lifetime using in-flight K− + 4He → Λ4H + π0 reaction at the J-PARC hadron facility. We demonstrate, for the first time, the effective selection ...of the hypernuclear bound state using only the γ-ray energy decayed from π0. This opens the possibility for a systematic study of isospin partner hypernuclei through comparison with data from (K−, π−) reaction. As the first application of this method, our result for the Λ4H lifetime, τ(HΛ4)=206±8(stat.)±12(syst.)ps, is one of the most precise measurements to date. We are also preparing to measure the lifetime of the hypertriton (Λ3H) using the same setup in the near future.
The Fuel_LF‐RTO strategy is real‐time optimization (RTO) strategy proposed here to find the optimal values of fueling for the polymer electrolyte membrane fuel cell hybrid power sources under unknown ...load profile, which is the case of fuel cell vehicle. The proposed optimization strategy is based on global extremum seeking (GES) algorithm and load‐following (LF) control for air and fuel flows. The results show the performance obtained with Fuel_LF‐RTO strategy in comparison with the Static Feed‐Forward strategy. The performance was estimated for constant and variable load. The FC system efficiency and the fuel consumption efficiency for maximum load of 8 kW can increase with up to 1.88% and 11.26 W lpm−1 in comparison with the sFF RTO strategy. Also, the fuel economy is 27.36 L during the 8 kW/12 s constant load cycle, which means an economy of 136.8 lpm. This performance is highlighted for constant load in range 2 to 8 kW, which represents 0.33% and 1.25% from nominal power of the 6 kW FC stack used in this study. Also, the performance was estimate for variable load considering the fuel economy, which can be up to 21.86 l during the 6.25 kW/12 s pulsed load cycle.
Coded masks for imaging of neutrino events Andreotti, M.; Bernardini, P.; Bersani, A. ...
The European physical journal. C, Particles and fields,
11/2021, Letnik:
81, Številka:
11
Journal Article
Recenzirano
Odprti dostop
The capture of scintillation light emitted by liquid Argon and Xenon under molecular excitations by charged particles is still a challenging task. Here we present a first attempt to design a device ...able to have a sufficiently high photon detection efficiency, in order to reconstruct the path of ionizing particles. The study is based on the use of masks to encode the light signal combined with single-photon detectors, showing the capability to detect tracks over focal distances of about tens of centimeters. From numerical simulations it emerges that it is possible to successfully decode and recognize signals, even of rather complex topology, with a relatively limited number of acquisition channels. Thus, the main aim is to elucidate a proof of principle of a technology developed in very different contexts, but which has potential applications in liquid argon detectors that require a fast reading. The findings support us to think that such innovative technique could be very fruitful in a new generation of detectors devoted to neutrino physics.
The new insights in the pathogenesis of osteoarthritis (OA) reveal the implications of adipocytokines. This study aims to analyze the correlations between the serum value of adiponectin and the ...clinical rehabilitation effects in patients diagnosed with knee OA, admitted and treated in the complex balneal resort of Techirghiol lake.
The prospective randomized clinical study included 23 patients in the study group, diagnosed with knee OA according to ACR criteria, and a matching control group of 23 subjects. Serum level of adiponectin (using ELISA technique), uric acid, triglycerides, cholesterol, HDL-cholesterol and clinical response using a visual analog scale (VAS) were evaluated in all patients on their admission day and after 10 days of balneal treatment. Control group benefited from the same procedures except for cold mud therapy and mineral water baths.
Plasma adiponectin levels (23.73±6.44 ng/dL) were statistically higher (p<0.05) in the study group compared to the control group (18.15±6.49 ng/dL). The mean VAS in both groups was decreased (p<0.005) compared to the initial moment.
Cold peloidotherapy combined with physical therapy and balneal factors induces serum adiponectin elevation and improves knee pain in OA. Therapeutic properties of Techirghiol mud still need further research.
The VIolation of Pauli exclusion principle -2 experiment, or VIP-2 experiment, at the Laboratori Nazionali del Gran Sasso searches for X-rays from copper atomic transitions that are prohibited by the ...Pauli exclusion principle. Candidate direct violation events come from the transition of a 2
p
electron to the ground state that is already occupied by two electrons. From the first data taking campaign in 2016 of VIP-2 experiment, we determined a best upper limit of
3.4
×
10
-
29
for the probability that such a violation exists. Significant improvement in the control of the experimental systematics was also achieved, although not explicitly reflected in the improved upper limit. By introducing a simultaneous spectral fit of the signal and background data in the analysis, we succeeded in taking into account systematic errors that could not be evaluated previously in this type of measurements.
The paper addresses three methods of assessing the freeze-thaw resistance of road concretes prepared with conventional and artificial materials. The blast furnace slag was used, as an artificial ...material, in granulated and milled form and in the form of crushed aggregates from the steel industry. The most common method used in our country to determine the freeze-thaw resistance is the destructive method by measuring the variation of the compressive strength of the samples subjected to repeated freeze-thaw cycles. The most severe method of testing the freeze resistance considered at the European level, is based on the calculation of the amount of exfoliated material in the presence of defrosting agents. Another method used is to determine the values of the dynamic modulus of elasticity after repeated cycles of freeze-thaw. The results obtained were interpreted according to different evaluation criteria and compared with limit values proposed by the standardized methods.
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