261 research outputs found
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1 beta inhibition
BACKGROUND:Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation.METHODS:We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare.RESULTS:All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P<0.001) and serum amyloid A (from a median of 174 mg to 8 mg per liter), C-reactive protein (from a median of 5.29 mg to 0.34 mg per deciliter), and the erythrocyte sedimentation rate decreased at month 3 (all P<0.001), and remained low at month 6. Magnetic resonance imaging showed improvement in cochlear and leptomeningeal lesions as compared with baseline. Withdrawal of anakinra uniformly resulted in relapse within days; retreatment led to rapid improvement. There were no drug-related serious adverse events.CONCLUSIONS:Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations
Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study
Autoinflammatory diseases (AIDs) are a relatively new family of disorders, defined about 19 years ago. Some of them are hereditary and some are not. The names given to these diseases do not follow any systematic guidelines, and sometimes the same disorder carries several names. The aim of this study is to refine the definition of AIDs and to provide some conventions for their naming. We focused mainly on monogenetic AIDs. Delphi technique, which enables consensus among a group of experts through internet and mail communication and questionnaires, was employed. After achieving 100% consensus among six members of a steering committee, the questionnaire containing AID definitions and the agreed-upon conventions were sent to 26 physicians and researchers working in the field of AIDs in order to gain broader support for the committee's proposals. The committee proposed the following definition for AIDs: "Autoinflammatory diseases are clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation (elevated acute phase reactants-APR) and the lack of a primary pathogenic role for the adaptive immune system (autoreactive T-cells or autoantibody production)." Several rules were defined for guiding the naming of these diseases among which are: abandoning eponyms and preferring the name of the gene over its encoded protein. The new definition for AIDs allows inclusion of clinical disorders mainly associated with defects in the innate immune system. The new conventions propose names with clinical meaning and in some cases even clues for treatment
Amyloid angiopathy of the floor of the mouth: a case report and review of the literature
Amyloidosis is a rare disease characterised by the deposition of insoluble extracellular fibrillar proteins in various tissues of the body. The pattern of manifestation is organ dependent and also on whether the disease is localised or systemic, primary or secondary
A single-electron transistor made from a cadmium selenide nanocrystal
The techniques of colloidal chemistry permit the routine creation of
semiconductor nanocrystals, whose dimensions are much smaller than those that
can be realized using lithographic techniques. The sizes of such nanocrystals
can be varied systematically to study quantum size effects or to make novel
electronic or optical materials with tailored properties. Preliminary studies
of both the electrical and optical properties of individual nanocrystals have
been performed recently. These studies show clearly that a single excess charge
on a nanocrystal can markedly influence its properties. Here we present
measurements of electrical transport in a single-electron transistor made from
a colloidal nanocrystal of cadmium selenide. This device structure enables the
number of charge carriers on the nanocrystal to be tuned directly, and so
permits the measurement of the energy required for adding successive charge
carriers. Such measurements are invaluable in understanding the energy-level
spectra of small electronic systems, as has been shown by similar studies of
lithographically patterned quantum dots and small metallic grains.Comment: 3 pages, PDF forma
X-Ray Spectroscopy of Stars
(abridged) Non-degenerate stars of essentially all spectral classes are soft
X-ray sources. Low-mass stars on the cooler part of the main sequence and their
pre-main sequence predecessors define the dominant stellar population in the
galaxy by number. Their X-ray spectra are reminiscent, in the broadest sense,
of X-ray spectra from the solar corona. X-ray emission from cool stars is
indeed ascribed to magnetically trapped hot gas analogous to the solar coronal
plasma. Coronal structure, its thermal stratification and geometric extent can
be interpreted based on various spectral diagnostics. New features have been
identified in pre-main sequence stars; some of these may be related to
accretion shocks on the stellar surface, fluorescence on circumstellar disks
due to X-ray irradiation, or shock heating in stellar outflows. Massive, hot
stars clearly dominate the interaction with the galactic interstellar medium:
they are the main sources of ionizing radiation, mechanical energy and chemical
enrichment in galaxies. High-energy emission permits to probe some of the most
important processes at work in these stars, and put constraints on their most
peculiar feature: the stellar wind. Here, we review recent advances in our
understanding of cool and hot stars through the study of X-ray spectra, in
particular high-resolution spectra now available from XMM-Newton and Chandra.
We address issues related to coronal structure, flares, the composition of
coronal plasma, X-ray production in accretion streams and outflows, X-rays from
single OB-type stars, massive binaries, magnetic hot objects and evolved WR
stars.Comment: accepted for Astron. Astrophys. Rev., 98 journal pages, 30 figures
(partly multiple); some corrections made after proof stag
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