Five year retrospective study of mortality in systemic inflammatory rheumatologic disorders

Background: Inflammatory systemic rheumatologic disorders are responsible for significant morbidity and premature deaths. The present study was done to assess causes of mortality in these patients.Methods: In the retrospective study, the death records of patients with inflammatory rheumatologic illnesses from January 2012 to January 2017 were studied. The demographic details, disease activity, organ involvement, treatment received and evidence of infection were noted.Results: 50 records were analyzed (25 systemic lupus erythematosus (SLE), 13 rheumatoid arthritis (RA), four immune myositis, three systemic sclerosis (SS), two takayasu’s arteritis (TA), two ankylosing spondylitis (AS) and one granulomatosis with polyangiitis (GPA)). The me an age of death was 39.94 years. Sixteen patients had disease related organ damage, 17 had active disease. Infection was present in 31 patients (gram negative organisms most commonly isolated), being the major contributor of mortality. Only two patients succumbed to acute coronary syndrome.Conclusions: Infection, disease activity and organ damage due to the disease are the major contributors to of death in hospitalized patients with inflammatory rheumatological disorders

Evidence for structural and electronic instabilities at intermediate temperatures in κ\kappa-(BEDT-TTF)2_{2}X for X=Cu[N(CN)2_{2}]Cl, Cu[N(CN)2_{2}]Br and Cu(NCS)2_{2}: Implications for the phase diagram of these quasi-2D organic superconductors

We present high-resolution measurements of the coefficient of thermal expansion $\alpha (T)=\partial \ln l(T)/\partial T$ of the quasi-twodimensional (quasi-2D) salts $\kappa$-(BEDT-TTF)$_2$X with X = Cu(NCS)$_2$, Cu[N(CN)$_2$]Br and Cu[N(CN)$_2$]Cl. At intermediate temperatures (B), distinct anomalies reminiscent of second-order phase transitions have been found at $T^\ast = 38$ K and 45 K for the superconducting X = Cu(NCS)$_2$ and Cu[N(CN)$_2$]Br salts, respectively. Most interestingly, we find that the signs of the uniaxial pressure coefficients of $T^\ast$ are strictly anticorrelated with those of $T_c$. We propose that $T^\ast$ marks the transition to a spin-density-wave (SDW) state forming on minor, quasi-1D parts of the Fermi surface. Our results are compatible with two competing order parameters that form on disjunct portions of the Fermi surface. At elevated temperatures (C), all compounds show $\alpha (T)$ anomalies that can be identified with a kinetic, glass-like transition where, below a characteristic temperature $T_g$, disorder in the orientational degrees of freedom of the terminal ethylene groups becomes frozen in. We argue that the degree of disorder increases on going from the X = Cu(NCS)$_2$ to Cu[N(CN)$_2$]Br and the Cu[N(CN)$_2$]Cl salt. Our results provide a natural explanation for the unusual time- and cooling-rate dependencies of the ground-state properties in the hydrogenated and deuterated Cu[N(CN)$_2$]Br salts reported in the literature.Comment: 22 pages, 7 figure

Simple and selective spectrophotometric assay of diethylcarbamazine citrate using 2,3-dichloro-5,6-dicyano-p-benzoquinone and 2,4-dinitro phenol

Two simple, rapid and inexpensive spectrophotometric methods are described for the determination of diethylcarbamazine citrate (DEC) in bulk drug and formulations. The methods are based on the charge-transfer (CT) complexation reaction involving DEC as the n- donor and 2,3-dichloro-5,6-dicyano-p-benzoquinone DDQ] (method A) and 2,4-dinitro phenol DNP] (method B) as pi-acceptors in chloroform. The absorbance of CT complexes was measured at 480 nm for method A, and 420 nm for method B. Under optimum conditions, Beer's law was obeyed over the concentration ranges 4-90 and 4-100 mu g mL(-1) for methods A and B, respectively

A statistical model for the intrinsically broad superconducting to normal transition in quasi-two-dimensional crystalline organic metals

Although quasi-two-dimensional organic superconductors such as $\kappa$-(BEDT-TTF)$_2$Cu(NCS)$_2$ seem to be very clean systems, with apparent quasiparticle mean-free paths of several thousand \AA, the superconducting transition is intrinsically broad (e.g $\sim 1$ K wide for $T_c \approx 10$ K). We propose that this is due to the extreme anisotropy of these materials, which greatly exacerbates the statistical effects of spatial variations in the potential experienced by the quasiparticles. Using a statistical model, we are able to account for the experimental observations. A parameter $\bar{x}$, which characterises the spatial potential variations, may be derived from Shubnikov-de Haas oscillation experiments. Using this value, we are able to predict a transition width which is in good agreement with that observed in MHz penetration-depth measurements on the same sample.Comment: 8 pages, 2 figures, submitted to J. Phys. Condens. Matte

Snake Genome Sequencing : Results and Future Prospects

Snake genome sequencing is in its infancy-very much behind the progress made in sequencing the genomes of humans, model organisms and pathogens relevant to biomedical research, and agricultural species. We provide here an overview of some of the snake genome projects in progress, and discuss the biological findings, with special emphasis on toxinology, from the small number of draft snake genomes already published. We discuss the future of snake genomics, pointing out that new sequencing technologies will help overcome the problem of repetitive sequences in assembling snake genomes. Genome sequences are also likely to be valuable in examining the clustering of toxin genes on the chromosomes, in designing recombinant antivenoms and in studying the epigenetic regulation of toxin gene expression.Peer reviewe

Electronic Collective Modes and Superconductivity in Layered Conductors

A distinctive feature of layered conductors is the presence of low-energy electronic collective modes of the conduction electrons. This affects the dynamic screening properties of the Coulomb interaction in a layered material. We study the consequences of the existence of these collective modes for superconductivity. General equations for the superconducting order parameter are derived within the strong-coupling phonon-plasmon scheme that account for the screened Coulomb interaction. Specifically, we calculate the superconducting critical temperature Tc taking into account the full temperature, frequency and wave-vector dependence of the dielectric function. We show that low-energy plasmons may contribute constructively to superconductivity. Three classes of layered superconductors are discussed within our model: metal-intercalated halide nitrides, layered organic materials and high-Tc oxides. In particular, we demonstrate that the plasmon contribution (electronic mechanism) is dominant in the first class of layered materials. The theory shows that the description of so-called ``quasi-two-dimensional superconductors'' cannot be reduced to a purely 2D model, as commonly assumed. While the transport properties are strongly anisotropic, it remains essential to take into account the screened interlayer Coulomb interaction to describe the superconducting state of layered materials.Comment: Final version (minor changes) 14 pages, 6 figure

Identification and Structural Characterization of a New Three-Finger Toxin Hemachatoxin from Hemachatus haemachatus Venom

10.1371/journal.pone.0048112PLoS ONE710

Electronic Structure Calculation by First Principles for Strongly Correlated Electron Systems

Recent trends of ab initio studies and progress in methodologies for electronic structure calculations of strongly correlated electron systems are discussed. The interest for developing efficient methods is motivated by recent discoveries and characterizations of strongly correlated electron materials and by requirements for understanding mechanisms of intriguing phenomena beyond a single-particle picture. A three-stage scheme is developed as renormalized multi-scale solvers (RMS) utilizing the hierarchical electronic structure in the energy space. It provides us with an ab initio downfolding of the global band structure into low-energy effective models followed by low-energy solvers for the models. The RMS method is illustrated with examples of several materials. In particular, we overview cases such as dynamics of semiconductors, transition metals and its compounds including iron-based superconductors and perovskite oxides, as well as organic conductors of kappa-ET type.Comment: 44 pages including 38 figures, to appear in J. Phys. Soc. Jpn. as an invited review pape

Mott Transition and Phase Diagram of κ\kappa-(BEDT-TTF)2Cu(NCS)2 Studied by Two-Dimensional Model Derived from Ab initio Method

We present an ab initio analysis for the ground-state properties of a correlated organic compound $\kappa$-(BEDT-TTF)2Cu(NCS)2. First, we derive an effective two-dimensional low-energy model from first principles, having short-ranged transfers and short-ranged Coulomb and exchange interactions. Then, we perform many-variable variational Monte Carlo calculations for this model and draw a ground-state phase diagram as functions of scaling parameters for the onsite and off-site interactions. The phase diagram consists of three phases; a paramagnetic metallic phase, an antiferromagnetic (Mott) insulating phase, and a charge-ordered insulating phase. In the phase diagram, the parameters for the real compound are close to the first-order Mott transition, being consistent with experiments. We show that the off-site Coulomb and exchange interactions affect the phase boundary; (i) they appreciably stabilize the metallic state against the Mott insulating phase and (ii) enhance charge fluctuations in a wide parameter region in the metallic phase. We observe arc-like structure in Fermi surface around the region where the charge fluctuations are enhanced. Possible relevance of the charge fluctuations to the experimentally observed dielectric anomaly in the $\kappa$-BEDT-TTF family compounds is also pointed out.Comment: 15 pages, 11 figures (minor revision, to appear in JPSJ

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25–30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays. Patients were recruited from a broad spectrum of clinical specialties. We applied a bioinformatics pipeline that would allow comprehensive analysis of all variant types. We combined established bioinformatics tools for phenotypic and genomic analysis with our novel algorithms (SVRare, ALTSPLICE and GREEN-DB) to detect and annotate structural, splice site and non-coding variants. RESULTS: Our diagnostic yield was 43/122 cases (35%), although 47/122 cases (39%) were considered solved when considering novel candidate genes with supporting functional data into account. Structural, splice site and deep intronic variants contributed to 20/47 (43%) of our solved cases. Five genes that are novel, or were novel at the time of discovery, were identified, whilst a further three genes are putative novel disease genes with evidence of causality. We identified variants of uncertain significance in a further fourteen candidate genes. The phenotypic spectrum associated with RMND1 was expanded to include polymicrogyria. Two patients with secondary findings in FBN1 and KCNQ1 were confirmed to have previously unidentified Marfan and long QT syndromes, respectively, and were referred for further clinical interventions. Clinical diagnoses were changed in six patients and treatment adjustments made for eight individuals, which for five patients was considered life-saving. CONCLUSIONS: Genome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. We have demonstrated that structural, splice site and intronic variants make a significant contribution to diagnostic yield and that comprehensive analysis of the entire genome is essential to maximise the value of clinical genome sequencing