71 research outputs found

    Ultraviolet Spectral Changes in Amorphous Carbon Grains Induced by Ion Irradiation

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    Small carbon grains, processed by UV radiation and cosmic rays, have been proposed as carriers of the 217.5 nm bump present in the interstellar extinction curves (Hecht 1986; Sorrell 1990). In this paper, we present the results of an experiment aimed at simulating, in a -rst approximation, the cosmic-ray irradiation active in space. We have studied the e†ects induced by 3 keV Heions on the UV spectrum of small cosmic analog carbon grains. Two di†erent kinds of grains have been analyzed. They were produced by vapor conden- sation in hydrogen and argon quenching atmospheres. Spectrophotometric measurements have been carried out on grains as they were produced and after ion irradiation in the spectral range 0.19E2 km. Relevant UV spectral changes are observed after ion irradiation: while the UV absorption band shifts from 203 to 215 nm in hydrogenated amorphous carbon grains, an opposite trend is observed for the samples produced in the argon atmosphere. In this case the UV band moves from 240 to 218 nm. These spectral changes are well correlated with the optical gap variations and are therefore interpreted in terms of grain microstructure changes induced by the interactions with ions. At the highest ion Nuence considered, the two carbons tend to have a similar microstructure, as testi-ed by the UV peak position and optical gap values because of a saturation e†ect of the two competitive processes, amorphization and graphitization, which occur in carbon samples during ion irradiation (Compagnini & Calcagno 1996). The results of the present experiment suggest that hydrogenated amorphous carbon grains cannot be transformed into graphite grains by cosmic-ray irradiation. Moreover, the efficiency of ion irradiation in destroying well-ordered aromatic structures poses the problem of the survival itself of polycrystalline or pure graphite particles in the interstellar medium. Subject headings: cosmic rays E dust, extinction E methods: laboratory E ultraviolet: IS

    Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

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    : Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P<0.0001). The mean value (±SD) of the polygenic LDL-C risk score was 1.00 (±0.18) in patients who were FH-mutation negative and 0.94 (±0.20) in patients who were FH-mutation positive (P<0.0001). In the receiver operating characteristic analysis, the area under the curve for recognizing subjects characterized by polygenic hypercholesterolemia was 0.59 (95% CI, 0.56-0.62), with sensitivity and specificity being 78% and 36%, respectively, at 0.905 as a cutoff value. Higher mean polygenic LDL-C risk score levels were observed among patients who were FH-mutation negative having pretreatment LDL-C levels in the range of 150 to 350 mg/dL (150-249 mg/dL: 1.01 versus 0.91, P<0.0001; 250-349 mg/dL: 1.02 versus 0.95, P=0.0001). A positive correlation between polygenic LDL-C risk score and pretreatment LDL-C levels was observed among patients with FH independently of the presence of causative mutations. Conclusions This analysis confirms the role of polymorphisms in modulating LDL-C levels, even in patients with genetically confirmed FH. More data are needed to support the use of the polygenic score in routine clinical practice

    Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

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    : Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M- and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M- also had lower mean levels of pretreatment low-density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M- and FH/M+ groups &lt;0.0001); however, subjects with FH/M- and lp(a) score ≥1 had higher mean (SD) pretreatment low-density lipoprotein cholesterol levels (223.47 [50.40] mg/dL) compared with subjects with FH/M- and lp(a) score=0 (219.38 [54.54] mg/dL for), although not statistically significant. The adjustment of low-density lipoprotein cholesterol levels based on lp(a) concentration reduced from 68% to 42% the proportion of subjects with low-density lipoprotein cholesterol level ≥190 mg/dL (or from 68% to 50%, considering a more conservative formula). Conclusions Our study supports the importance of measuring lp(a) to perform the diagnosis of FH appropriately and to exclude that the observed phenotype is driven by elevated levels of lp(a) before performing the genetic test for FH

    Organics Captured from Comet Wild 2 by the Stardust Spacecraft

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    Organics found in Comet Wild 2 samples show a heterogeneous and unequilibrated distribution in abundance and composition. Some are similar, but not identical, to those in interplanetary dust particles (IDPs) and carbonaceous meteorites. A new class of aromatic-poor organic material is also present. The organics are rich in O and N compared to meteoritic organics. Aromatic compounds are present, but the samples tend to be relatively poorer in aromatics than meteorites and IDPs. D and 15N suggest that some organics have an interstellar/protostellar heritage. While the variable extent of modification of these materials by impact capture is not yet fully constrained, a remarkably diverse suite of organic compounds is present and identifiable within the returned samples

    Efficacia del trattamento con cicloscporina A in un paziente con anemia emolitica autoimmune resistente alla terapia con steroidi

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    We present a patient with isolated steroid resistant autoimmune haemolytic anaemia successfully treated with cyclosporin A for 7 months with no adverse side effects and free of disease after 2 years of therapy. We thus recommend to consider cyclosporin A as a first choice in steroid resistant patients with autoimmune haemolytic anaemia. More studies are necessary to assess the efficacy and safety of this treatment
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