A family was previously identified that cosegregates a pericentric inversion, inv(3)(p14 : q21), with an early-onset developmental condition, characterized by impulsive behavior and intellectual ...deficit. The inversion breakpoints lie within DOCK3 and SLC9A9 at the p-arm and q-arm, respectively. Based on this report, these genes were selected to be evaluated in a family-based attention-deficit/hyperactivity disorder (AD/HD) association study.
Conners' Parent (CPRS) and Teacher (CTRS) Rating Scales of AD/HD symptoms and Conners' Continuous Performance Test (CPT) measures were collected and a minimal number of tagging single-nucleotide polymorphisms (SNPs) in each gene were selected for analysis. Analyses were performed on families who met research criteria for AD/HD. Using the program, QTDT, each tagging SNP was tested for association with T-scores from the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) subscales according to the CTRS and CPRS, and five CPT measures.
After adjusting for multiple testing, a SNP in the 3' UTR of SLC9A9, rs1046706, remained significantly associated (false discovery rate, q value <0.05) with scores on the DSM-IV hyperactive-impulsive and total symptom subscales according to the CTRS and errors of commission on the CPT. In addition, an intronic SLC9A9 SNP, rs2360867, remained significantly associated with errors of commission.
Our results suggest that SLC9A9 may be related to hyperactive-impulsive symptoms in AD/HD and the disruption of SLC9A9 may be responsible for the behavioral phenotype observed in the inversion family. The association with SLC9A9 is particularly interesting as it was recently implicated in a genome-wide association study for AD/HD. Further investigation of the role of SLC9A9 in AD/HD and other behavioral disorders is warranted.
Living with genetic risk: Effect on adolescent self-concept McConkie-Rosell, Allyn; Spiridigliozzi, Gail A.; Melvin, Elizabeth ...
American journal of medical genetics. Part C, Seminars in medical genetics,
02/2008, Volume:
148C, Issue:
1
Journal Article
The number as well as the energy and angular distributions of particles in extensive air showers (EAS) depend on the stage of the shower development and the distance to the shower axis. In this work ...we derive an analytic parameterization of the particle distributions at ground from air shower simulations convolved with the response of a surface detector array. Shower particles are classified into four components according to the shower component they belong to: the muonic component, the electromagnetic component stemming from muon interactions and muon decay, the purely electromagnetic component, and the newly introduced electromagnetic component from low-energy hadrons. Using this scheme, we will show that the total signal at ground level for different surface detectors can be described with minimal fluctuations with parameterizations depending on the primary energy, position of the shower maximum, and the overall number of muons in the shower. The simulation results for different combinations of primaries and hadronic interaction models are reproduced with an accuracy better than 5–10% in the range from 100 m to 2000 m from the shower core. This parameterization is then used as a Lateral Distribution ansatz to reconstruct showers in current EAS experiments. Since this ansatz depends on physical parameters, it opens the possibility to infer them from data.
To assess the effects of postnatal parental smoking on subsequent parent and teacher ratings of DSM-IV attention deficit hyperactivity disorder (ADHD) symptoms and oppositional behaviors in children ...diagnosed with ADHD and their siblings. Children between 5 and 12 years of age with ADHD and their siblings were included. DSM-IV ADHD symptom subscales (Inattentive and hyperactive-impulsive), and oppositionality subscale scores from Conners' Rating Scales were predicted on the basis of parental smoking status in the first 7 years after birth using Generalized Estimating Equations controlling for a range of relevant covariates. Postnatal parental smoking was associated with both parent and teacher ratings of ADHD symptoms and oppositional behavior. After controlling for a number of covariates, several of these relationships were still significant. The risk of maternal smoking for the development of ADHD symptoms does not end during pregnancy. Research on the mechanisms underlying the observed associations is needed.
A double-phase argon Time Projection Chamber (TPC), with an active mass of 185 g, has been designed and constructed for the Recoil Directionality (ReD) experiment. The aim of the ReD project is to ...investigate the directional sensitivity of argon-based TPCs via columnar recombination to nuclear recoils in the energy range of interest (20–
200
keV
nr
) for direct dark matter searches. The key novel feature of the ReD TPC is a readout system based on cryogenic Silicon Photomultipliers (SiPMs), which are employed and operated continuously for the first time in an argon TPC. Over the course of 6 months, the ReD TPC was commissioned and characterised under various operating conditions using
γ
-ray and neutron sources, demonstrating remarkable stability of the optical sensors and reproducibility of the results. The scintillation gain and ionisation amplification of the TPC were measured to be
g
1
=
(
0.194
±
0.013
)
photoelectrons/photon and
g
2
=
(
20.0
±
0.9
)
photoelectrons/electron, respectively. The ratio of the ionisation to scintillation signals (S2/S1), instrumental for the positive identification of a candidate directional signal induced by WIMPs, has been investigated for both nuclear and electron recoils. At a drift field of 183 V/cm, an S2/S1 dispersion of 12% was measured for nuclear recoils of approximately 60–
90
keV
nr
, as compared to 18% for electron recoils depositing 60 keV of energy. The detector performance reported here meets the requirements needed to achieve the principal scientific goals of the ReD experiment in the search for a directional effect due to columnar recombination. A phenomenological parameterisation of the recombination probability in LAr is presented and employed for modeling the dependence of scintillation quenching and charge yield on the drift field for electron recoils between 50–500 keV and fields up to 1000 V/cm.
Abstract
Background
Risk stratification in patients with non-ST elevation acute coronary syndrome (NSTEACS), becomes a priority after its diagnosis, due to the fact that it gives us information about ...prognosis and has crucial implications. The latest guidelines of European Society of Cardiology (ESC) suggest a new proposal of risk stratification dividing patients in three different groups: “low”, “high” and “very high risk”. Thus, they remove the intermediate risk group that defended the previous guidelines (2015).
Purpose
Our aim was to identify an intermediate risk group following the recommendations of the previous guidelines about risk stratification. We believe that the risk stratification in four groups if more accurate that the latest proposed in 2020 in three groups, because the “intermediate risk group” has a different prognosis that the subgroup nowadays considered “low risk”.
Methods
We included a cohort of 7 597 patients with NSTEACS admitted in two different Cardiology departments between 2003 and 2017 with 4,4±2,7 mean years of follow-up. Subsequently, a classification of the patients in four different risk groups was made following the 2015 guidelines and events during follow-up was assigned in the next categories:first adverse major cardiovascular event (MACE),all-cause mortality and cardiovascular mortality.
Results
Stratified analysis brought up that patients included in the intermediate risk group, had a different prognosis to the categories of “low” and “high risk” patients and we obtained the following results:
Mean incidence rate for total mortality measured in cases per 100 person-year confidence interval (CI 95%) was 1.96; for “low risk” patients CI95% 1.30–2.95, “intermediate risk” 3.91; (CI95% 3.28–4.57), “high risk” 4.94; CI95% 4.87–5.21 and “very high risk” 8.74; CI95% 7.75- 9.85.
Incidence rate for cardiovascular mortality for “low”, “intermediate”, “high” and “very high” was 1.02; (CI95% 0.58–1.18); 2.64 (CI95% 2.13–3.26); 3.32 (CI95% 3.11–3.55) and 6.71 (CI95% 4.84–7.69), respectively.
Using Cox analysis, the “intermediate risk group” (refference), still achieved statistical significance. Results expressed in hazard ratio demonstrated that:
Conclusion
These findings suggest that the four categories proposal could have better ability for risk stratification in NSTEACS patients and make us doubt about the new three groups classification displayed in the current ESC guidelines, particularly the “intermediate risk” group exclusion that would be reassessed as “low risk”.
Funding Acknowledgement
Type of funding sources: Public hospital(s). Main funding source(s): No funding sources.
We present a framework for the study of muon density patterns on the ground due to showers produced in the atmosphere by cosmic rays incident at high zenith angles. As a checking procedure, ...predictions of a model based on such a framework are compared to the simulation results.
Abstract Aria is a plant hosting a $${350}\,\hbox {m}$$ 350 m cryogenic isotopic distillation column, the tallest ever built, which is being installed in a mine shaft at Carbosulcis S.p.A., ...Nuraxi-Figus (SU), Italy. Aria is one of the pillars of the argon dark-matter search experimental program, lead by the Global Argon Dark Matter Collaboration. It was designed to reduce the isotopic abundance of $${^{39}\hbox {Ar}}$$ 39 Ar in argon extracted from underground sources, called Underground Argon (UAr), which is used for dark-matter searches. Indeed, $${^{39}\hbox {Ar}}$$ 39 Ar is a $$\beta $$ β -emitter of cosmogenic origin, whose activity poses background and pile-up concerns in the detectors. In this paper, we discuss the requirements, design, construction, tests, and projected performance of the plant for the isotopic cryogenic distillation of argon. We also present the successful results of the isotopic cryogenic distillation of nitrogen with a prototype plant.
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