87 research outputs found
Magnetic and structural properties of the iron silicide superconductor LaFeSiH
The magnetic and structural properties of the recently discovered
pnictogen/chalcogen-free superconductor LaFeSiH (~K) have been
investigated by Fe synchrotron M{\"o}ssbauer source (SMS) spectroscopy,
x-ray and neutron powder diffraction and Si nuclear magnetic resonance
spectroscopy (NMR). No sign of long range magnetic order or local moments has
been detected in any of the measurements and LaFeSiH remains tetragonal down to
2 K. The activated temperature dependence of both the NMR Knight shift and the
relaxation rate is analogous to that observed in strongly overdoped
Fe-based superconductors. These results, together with the
temperature-independent NMR linewidth, show that LaFeSiH is an homogeneous
metal, far from any magnetic or nematic instability, and with similar Fermi
surface properties as strongly overdoped iron pnictides. This raises the
prospect of enhancing the of LaFeSiH by reducing its carrier
concentration through appropriate chemical substitutions. Additional SMS
spectroscopy measurements under hydrostatic pressure up to 18.8~GPa found no
measurable hyperfine field
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]–R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85α, p55α, and p50α) of class IA phosphoinositide 3-kinases. Objectives We sought to review the clinical, immunologic, and histopathologic phenotypes of APDS2 in a genetically defined international patient cohort. Methods The medical and biological records of 36 patients with genetically diagnosed APDS2 were collected and reviewed. Results Mutations within splice acceptor and donor sites of exon 11 of the PIK3R1 gene lead to APDS2. Recurrent upper respiratory tract infections (100%), pneumonitis (71%), and chronic lymphoproliferation (89%, including adenopathy [75%], splenomegaly [43%], and upper respiratory tract lymphoid hyperplasia [48%]) were the most common features. Growth retardation was frequently noticed (45%). Other complications were mild neurodevelopmental delay (31%); malignant diseases (28%), most of them being B-cell lymphomas; autoimmunity (17%); bronchiectasis (18%); and chronic diarrhea (24%). Decreased serum IgA and IgG levels (87%), increased IgM levels (58%), B-cell lymphopenia (88%) associated with an increased frequency of transitional B cells (93%), and decreased numbers of naive CD4 and naive CD8 cells but increased numbers of CD8 effector/memory T cells were predominant immunologic features. The majority of patients (89%) received immunoglobulin replacement; 3 patients were treated with rituximab, and 6 were treated with rapamycin initiated after diagnosis of APDS2. Five patients died from APDS2-related complications. Conclusion APDS2 is a combined immunodeficiency with a variable clinical phenotype. Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, likely in the near future, selective phosphoinositide 3-kinase δ inhibitors are possible treatment options
Proteome-wide identification of poly(ADP-ribose) binding proteins and poly(ADP-ribose)-associated protein complexes
Poly(ADP-ribose) (pADPr) is a polymer assembled from the enzymatic polymerization of the ADP-ribosyl moiety of NAD by poly(ADP-ribose) polymerases (PARPs). The dynamic turnover of pADPr within the cell is essential for a number of cellular processes including progression through the cell cycle, DNA repair and the maintenance of genomic integrity, and apoptosis. In spite of the considerable advances in the knowledge of the physiological conditions modulated by poly(ADP-ribosyl)ation reactions, and notwithstanding the fact that pADPr can play a role of mediator in a wide spectrum of biological processes, few pADPr binding proteins have been identified so far. In this study, refined in silico prediction of pADPr binding proteins and large-scale mass spectrometry-based proteome analysis of pADPr binding proteins were used to establish a comprehensive repertoire of pADPr-associated proteins. Visualization and modeling of these pADPr-associated proteins in networks not only reflect the widespread involvement of poly(ADP-ribosyl)ation in several pathways but also identify protein targets that could shed new light on the regulatory functions of pADPr in normal physiological conditions as well as after exposure to genotoxic stimuli
PI3Kδ and primary immunodeficiencies.
Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a combined immunodeficiency syndrome, referred to as activated PI3Kδ syndrome (APDS; also known as p110δ-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency (PASLI)). Paradoxically, both loss-of-function and gain-of-function mutations that affect these genes lead to immunosuppression, albeit via different mechanisms. Here, we review the roles of PI3Kδ in adaptive immunity, describe the clinical manifestations and mechanisms of disease in APDS and highlight new insights into PI3Kδ gleaned from these patients, as well as implications of these findings for clinical therapy
Cardiovascular disease and the role of oral bacteria
In terms of the pathogenesis of cardiovascular disease (CVD) the focus has traditionally been on dyslipidemia. Over the decades our understanding of the pathogenesis of CVD has increased, and infections, including those caused by oral bacteria, are more likely involved in CVD progression than previously thought. While many studies have now shown an association between periodontal disease and CVD, the mechanisms underpinning this relationship remain unclear. This review gives a brief overview of the host-bacterial interactions in periodontal disease and virulence factors of oral bacteria before discussing the proposed mechanisms by which oral bacterial may facilitate the progression of CVD
Hydrogen Diffusion and Trapping in Micro-Nanocrystalline Silicon
Effusion experiments and Secondary Ion Mass Spectrometry (SIMS) profiling are performed on post-hydrogenated (deuterated) micro-nanocrystallized silicon films obtained by thermal annealing of amorphous sputtered layers. The analysis of the effusion spectra and SIMS profiles allows to evidence the existence of cavities containing molecular hydrogen, the presence of weakly bonded hydrogen in small clusters and hydrogen trapped at grain boundaries. These results are analysed with regard to the microstructure of the crystallized layers studied by Transmission Electron Microscopy. This microstructure depends on the conditions of deposition of the original amorphous layers.Des expériences d'exodiffusion sont réalisées sur des échantillons de silicium déposés en couches minces par pulvérisation cathodique, cristallisés par recuit thermique et post-hydrogénés (deutérés). L'analyse des spectres d'exodiffusion et des profils de diffusion obtenus par spectrométrie de masse d'ions secondaires permet de conclure à la présence de cavités suffisamment larges pour contenir de l'hydrogène sous forme moléculaire, à la présence d'hydrogène faiblement lié situé dans des micro-cavités ainsi qu'à celle d'hydrogène piégé aux joints de grains. Ces résultats sont corrélés aux microstructures des couches analysées par Microscopie Electronique en Transmission, microstructures qui dépendent des conditions de depôt des couches initiales de silicium amorphes
- …