| 1. |
- Aksentijevich, Ivona, et al.
(författare)
-
An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist
- 2009
-
Ingår i: New England Journal of Medicine. - 0028-4793. ; 360:23, s. 2426-2437
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone. METHODS We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. Response to empirical treatment with the recombinant interleukin-1-receptor antagonist anakinra in the first patient prompted us to test for the presence of mutations and changes in proteins and their function in interleukin-1-pathway genes including IL1RN. RESULTS We identified homozygous mutations of IL1RN in nine affected children, from one family from Newfoundland, Canada, three families from the Netherlands, and one consanguineous family from Lebanon. A nonconsanguineous patient from Puerto Rico was homozygous for a genomic deletion that includes IL1RN and five other interleukin-1-family members. At least three of the mutations are founder mutations; heterozygous carriers were asymptomatic, with no cytokine abnormalities in vitro. The IL1RN mutations resulted in a truncated protein that is not secreted, thereby rendering cells hyperresponsive to interleukin-1 beta stimulation. Patients treated with anakinra responded rapidly. CONCLUSIONS We propose the term deficiency of the interleukin-1-receptor antagonist, or DIRA, to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN. The absence of interleukin-1-receptor antagonist allows unopposed action of interleukin-1, resulting in life-threatening systemic inflammation with skin and bone involvement. (ClinicalTrials.gov number, NCT00059748.)
|
|
| 2. |
- Xiao, Lidan, et al.
(författare)
-
Theoretical study of the spectroscopy and radiative transition probabilities of Si2 from visible to infrared
- 2023
-
Ingår i: Physical Chemistry, Chemical Physics - PCCP. - : Royal Society of Chemistry. - 1463-9076 .- 1463-9084. ; 25:41, s. 28350-28362
-
Tidskriftsartikel (refereegranskat)abstract
- High level ab initio calculations on the electronic states of a silicon dimer (Si2) have been carried out by employing a multi-reference configuration interaction plus Davidson correction (MRCI + Q) approach with the aug-cc-pVQZ basis set. The scalar relativistic correction is taken into consideration by the second-order Douglas–Kroll–Hess approximation. In the present work, the transition properties (oscillator strength, Einstein spontaneous emission coefficient and radiative lifetime) of the singlet–singlet, triplet–triplet, and quintet–quintet transitions of Si2 are discussed. We emphasize the triplet–triplet emission bands H3Σ−u–X3Σ−g, K3Σ−u–X3Σ−g and D3Πu–L3Πg which are dominant for 0–11 (18 822 cm−1), 0–0 (30 672 cm−1), and 0–0 (28 881 cm−1) transitions, respectively. In addition, the strong experimentally observed b1Πu–d1Σ+g band around 4184 cm−1 corresponds to the second 1Σ+g–b1Πu combination in the infrared region. The calculated oscillator strengths of the singlet–singlet transitions (f1Πg–e1Σ−u, 21Πg–b1Πu, b1Πu–d1Σ+g and g1Δu–a1Δg) are in the order of 10−3. From a theoretical point of view, the 0–0 sub-band for the f1Πg–e1Σ−u transition, 0–7 for 21Πg–b1Πu, 0–0 for b1Πu–d1Σ+g and the 0–7 vibronic bands for the g1Δu–a1Δg transition may be observed experimentally. It is expected that the present results could provide theoretical support for a deeper understanding of the experimental Si2 spectra providing further applications in astrophysics.
|
|
