Background and aims: We adopted the twin method to disentangle the genetic and environmental components of susceptibility to coeliac disease (CD). We estimated disease concordance rate by zygosity ...and HLA genotypes, discordance times, progression rates to disease, and heritability. Methods: We crosslinked the Italian Twin Registry with the membership lists of the Italian Coeliac Disease Association and recruited 23 monozygotic (MZ) and 50 dizygotic (DZ) twin pairs with at least one affected member. Zygosity was assigned by DNA fingerprinting, and HLA-DQ and DR alleles were genotyped. Disease status was ascertained by antiendomysial, anti-human tissue transglutaminase antibodies, and bowel biopsy. Results: Concordance was significantly higher in MZ (83.3% probandwise, 71.4% pairwise) than in DZ (16.7% probandwise, 9.1% pairwise) pairs. Concordance was not affected by sex or HLA genotype of the co-twin and being MZ was significantly associated with the occurrence of CD (Cox adjusted hazard ratio 14.3 (95% confidence interval 4.0–50.3)). In 90% of concordant pairs the discordance time was ⩽2 years. MZ and DZ co-twins had 70% and 9% cumulative probability of having symptomatic or silent forms of CD, respectively, within five years. Under ACE (additive genetic, common, and unshared environmental factors) models, with CD population prevalences of 1/91 and 1/1000, heritability estimates were 87% and 57%, respectively. Conclusion: MZ pairs have a high probability of being concordant, regardless of sex or HLA genotype. Most of the affected co-twins receive a diagnosis within two years. A remarkable proportion of phenotypic variance is due to genetic factors.
Due to be launched in late 2021, the Imaging X-ray Polarimetry Explorer (IXPE) is a NASA Small Explorer mission designed to perform polarization measurements in the 2–8 keV band, complemented with ...imaging, spectroscopy and timing capabilities. At the heart of the focal plane is a set of three polarization-sensitive Gas Pixel Detectors (GPD), each based on a custom ASIC acting as a charge-collecting anode.
In this paper we shall review the design, manufacturing, and test of the IXPE focal-plane detectors, with particular emphasis on the connection between the science drivers, the performance metrics and the operational aspects. We shall present a thorough characterization of the GPDs in terms of effective noise, trigger efficiency, dead time, uniformity of response, and spectral and polarimetric performance. In addition, we shall discuss in detail a number of instrumental effects that are relevant for high-level science analysis—particularly as far as the response to unpolarized radiation and the stability in time are concerned.
The use of electronic devices to improve animal health, welfare and farm efficiency in precision livestock farming is a developing area of great scientific and commercial interest. In particular, the ...use of on-site dairy farm instruments to detect calving is a tool in reproduction livestock farming. The primary aim of this study was to validate the ability of the Moocall device (MD) to detect calving cows. In addition, behavioural changes in parturient dairy cows were evaluated using video-based observations. The MD was applied approximately 9 days before cow delivery. Observational sessions were conducted three times a day for each cow from the day before MD application to calving time. The sensitivity (Se) and specificity (Sp) at 3 and 24 h before calving were measured to test the effectiveness of the MD. In addition, behavioural changes were investigated before and after the MD application as well as before and during calving time. The 3 h Se and the 3 h Sp obtained were 95.2 and 71.4%, respectively. No false negatives were observed in the 24 h before delivery (24 h Se=100%) while the 3 h Se was 95.2%. The MD was well tolerated by the dairy cows since no change in behaviours was observed in this study among the cows with or without the MD, except for an increase in eating behaviour in the animals with the MD. As regards, the behavioural pattern during calving time (8 h before calving) in comparison with the previous phases, a significant increase in tail contraction frequency and raised tail position, and a decrease in eating behaviour and rumination time were observed. The first principal component (PC) was primarily explained by these variables, and calving cows best contributed to this PC. According to the results of the present study, the use of the MD can be a useful tool in detecting the moment of calving.
Pion–Muon separation with a RICH prototype for the NA62 experiment Angelucci, B.; Anzivino, G.; Avanzini, C. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
09/2010, Letnik:
621, Številka:
1
Journal Article
Recenzirano
The NA62 experiment at CERN, aimed to measure
K
+
→
π
+
ν
ν
¯
branching fraction (O(10
−10)), relies on a Neon based RICH detector for
π
/
μ
separation, time measurement and level 0 trigger. The ...experimental requirements for this detector are: a muon contamination in pion samples lower than 5×10
−3 in the momentum range 15–35
GeV/
c and a time resolution on the charged track better than 100
ps. A prototype of such a detector was built and tested in 2009; it consists of a full length (
≈
18
m
) Ne filled vessel equipped with a spherical mirror and 414 PMs on its focal plane, located about 17
m upstream of the mirror. This prototype was tested at CERN SPS on a positive hadron beam, in the required momentum range, to measure the
π
/
μ
separation and to confirm the time resolution obtained with a previous prototype; the
μ
misidentification probability is about 0.7% and the time resolution is better than 100
ps in the whole momentum range.
Celiac disease (CD) and chronic urticaria (CU) are both sustained by immune mechanisms, but there are so far few data on their clinical association. We performed a case–control study to determine the ...occurrence of CD in urticaria and matched control children, and to assess the clinical relevance of this association. Children and adolescents were diagnosed to have severe chronic idiopathic urticaria in the presence of hives for more than 6 wk poorly or not responsive to oral antihistamines. Other known causes of urticaria had to be excluded. A matched control group without urticaria was enrolled. In both groups, the presence of CD was searched by assaying antitransglutaminase and antiedomysial antibodies, and confirmed with endoscopic intestinal biopsy. Results. CD was diagnosed and confirmed in 4/79 (5.0%) of children with CU and in 17/2545 (0.67%) of the controls (p = 0.0003). In the four children with urticaria and CD the gluten free diet (GFD) lead to complete remission of urticaria within 5–10 wk, whereas the disappearance of serological markers occurred in longer times (5–9 months). Conclusions. The presence of CD in children with CU was significantly more frequent than in controls. GFD resulted in urticaria remission. CD may be regarded in such subjects as a cause of CU.
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