In recent years, the knowledge about the immune-mediated impairment of bone marrow precursors in immune-dysregulation and autoimmune disorders has increased. In addition, immune-dysregulation, secondary to marrow failure, has been reported as being, in some cases, the most evident and early sign of the disease and making the diagnosis of both groups of disorders challenging. Dyskeratosis congenita is a disorder characterized by premature telomere erosion, typically showing marrow failure, nail dystrophy and leukoplakia, although incomplete genetic penetrance and phenotypes with immune-dysregulation features have been described. We report on a previously healthy 17-year-old girl, with a cousin successfully treated for acute lymphoblastic leukemia, who presented with leukopenia and neutropenia. The diagnostic work-up showed positive anti-neutrophil antibodies, leading to the diagnosis of autoimmune neutropenia, a slightly low NK count and high TCR-αβ+-double-negative T-cells. A next-generation sequencing (NGS) analysis showed the 734C>A variant on exon 6 of the TINF2 gene, leading to the p.Ser245Tyr. The telomere length was short on the lymphocytes and granulocytes, suggesting the diagnosis of an atypical telomeropathy showing with immune-dysregulation. This case underlines the importance of an accurate diagnostic work-up of patients with immune-dysregulation, who should undergo NGS or whole exome sequencing to identify specific disorders that deserve targeted follow-up and treatment. 相似文献
This work reviews the use of terpenes available from renewable resources in the fine chemicals industry. Different products and processes are discussed. Transformations of terpenes involving isomerization, hydration, condensation, hydroformylation, hydrogenation, cyclization, oxidation, rearrangement, and ring contraction/enlargement are routes to produce a variety of compounds of interest to the pharmaceutical, agrochemical, and flavors and fragrances industries. 相似文献
Benign prostatic hyperplasia (BPH) is an age-related chronic disorder, characterized by the hyperproliferation of prostatic epithelial and stromal cells, which drives prostate enlargement. Since BPH aetiology and progression have been associated with the persistence of an inflammatory stimulus, induced both by Nuclear Factor-kappa B (NF-κB) activation and reactive oxygen species (ROS) production, the inhibition of these pathways could result in a good tool for its clinical treatment. This study aimed to evaluate the antioxidant and anti-inflammatory activity of a combined formulation of Serenoa repens and Urtica dioica (SR/UD) in an in vitro human model of BPH. The results confirmed both the antioxidant and the anti-inflammatory effects of SR/UD. In fact, SR/UD simultaneously reduced ROS production, NF-κB translocation inside the nucleus, and, consequently, interleukin 6 (IL-6) and interleukin 8 (IL-8) production. Furthermore, the effect of SR/UD was also tested in a human androgen-independent prostate cell model, PC3. SR/UD did not show any significant antioxidant and anti-inflammatory effect, but was able to reduce NF-κB translocation. Taken together, these results suggested a promising role of SR/UD in BPH and BPH-linked disorder prevention. 相似文献
Multi-electrode germanium detectors are being used as an active target for decay path measurements of charmed mesons. The procedure used to fabricate such detectors is described and a brief analysis of their performance is given. 相似文献
In this paper an XRD, FTIR and TPD investigation of NO2 surface adsorption sites of , Al2O3 and barium supported , Al2O3 is reported. Aim of this study is to bring additional light on the surface structures involved in NOx adsorption. Two samples of barium supported aluminas have been prepared and aged at 800 °C. These samples were characterised in comparison with the relative alumina support. The XRD characterisation of these samples shows the presence of barium carbonate and barium aluminate supported on alumina. The comparison of the FTIR spectra, before and after NO2 adsorption, has revealed the formation, upon NO2 contact, of a complex variety of nitrate and nitrite groups. The thermal desorption of nitrate and nitrite species has been simultaneously studied by means of FTIR spectroscopy and by TPD technique. By comparing the structural, adsorptive and spectroscopic results obtained on alumina and on barium supported alumina samples, a hypothesis on the basic sites active in NO2 adsorption and of the possible decomposition paths induced by thermal heating are proposed. 相似文献
A method for Orthogonal Phase Encoding Reduction of Artifact (OPERA) was developed and tested.
Materials and methods
Because the position of ghosts and aliasing artifacts is predictable along columns or rows, OPERA combines the intensity values of two images acquired using the same parameters, but with swapped phase-encoding directions, to correct the artifacts. Simulations and phantom experiments were conducted to define the efficacy, robustness, and reproducibility. Clinical validation was performed on a total of 1003 images by comparing the OPERA-corrected images and the corresponding image standard in terms of Signal-to-Noise Ratio (SNR) and Contrast-to-Noise Ratio (CNR). The method efficacy was also rated using a Likert-type scale response by two experienced independent radiologists using a single-blinded procedure.
Results
Simulations and phantom experiments demonstrated the robustness and effectiveness of OPERA in reducing artifacts strength. OPERA application did not significantly change the SNR [+?4.16%; inter-quartile range (IQR): 2.72–5.01%] and CNR (+?4.30%; IQR: 2.86–6.04%) values. The two radiologists observed a total of 893 original images with artifacts (89.03% of the total images), a reduction in the perceived artifacts of 82.0% and 83.9% (p?<?0.0001), and an improvement in the perceived SNR (82.8% and 88.5%; K?=?0.714) and perceived CNR (86.9–88.9%; K?=?0.722).
Discussion
The study demonstrated that OPERA reduces MR artifacts and improves the perceived image quality.