Microarray in clinical practice – utility vs complexity. Mixed phenotype of duplication 15q11.2q13.1 and deletion 16p11.2

Introduction: There’s a consensus to perform chromosomal microarray technique as first-tier clinical diagnostic test for individuals with developmental disabilities. However, given the complexity of clinical presentations, often several diagnostic methods are held before conducting microarray. Method: We report the case of a 5 year-old boy referred to Medical Genetics due to short stature, developmental disabilities and facial dysmorphic features. He was born from eutocic delivery after an uneventful pregnancy. He had psychomotor milestones delayed like sitting at 9 months and walking at 24 months, holding an immature broad-based gait. There was history of learning difficulties from both parents, and the mother has also short stature. On examination it was noted some facial dysmorphic features like high forehead, conical canines and rarefaction of the distal portion of the eyebrows. Due to the history of an episode of transient ataxia, and suspicion of an inherited metabolic disorder, he had already performed various analytical and imaging screenings, all normal. Results: Chromosomal microarray analysis revealed two pathogenic Copy Number Variants (CNV’s): 16p11.2 deletion and 15q11.2q13.1 duplication. The 15q11q13 microduplication syndrome (OMIM # 608636) is a very rare clinical entity with about 30 reported cases with maternal origin, and it is characterized by neurobehavioral disorder, hypotonia, cognitive impairment, epilepsy and short stature. The 16p11.2 microdeletion syndrome (OMIM # 613444) is also a rare clinical entity, with high penetrance, associated with obesity and developmental disabilities. Discussion: Despite the unquestionable utility of microarray, the correlation of the CNV's with the phenotype is often difficult by the rarity of these new microdeletion/duplication clinical entities. In this case the interpretation has increased difficulty because of the simultaneous existence of two distinct clinical entities. Segregation studies, which in the first step include parental analysis, are essential for genetic counseling and determining the risk of recurrence but also for a more accurate correlation genotype-phenotype

Economic and Market Analysis of CO2 Utilization Technologies – Focus on CO2 derived from North Dakota lignite

AbstractBased on information obtained about the technical aspects of the technologies, several challenges are expected to be faced by any potential CO2 utilization technologies intended for North Dakota lignite plants. The weather, alkaline content of lignite fly ash, and space limitations in the immediate vicinity of existing power plants are challenging hurdles to overcome. Currently, no CO2 utilization option is ready for implementation or integration with North Dakota power plants. Mineralization technologies suffer from the lack of a well-defined product and insufficient alkalinity in lignite fly ash. Algae and microalgae technologies are not economically feasible and will have weather- related challenges

Religious diversity, empathy, and God images : perspectives from the psychology of religion shaping a study among adolescents in the UK

Major religious traditions agree in advocating and promoting love of neighbour as well as love of God. Love of neighbour is reflected in altruistic behaviour and empathy stands as a key motivational factor underpinning altruism. This study employs the empathy scale from the Junior Eysenck Impulsiveness Questionnaire to assess the association between empathy and God images among a sample of 5993 religiously diverse adolescents (13–15 years old) attending state maintained schools in England, Northern Ireland, Scotland, Wales, and London. The key psychological theory being tested by these data concerns the linkage between God images and individual differences in empathy. The data demonstrate that religious identity (e.g. Christian, Muslim) and religious attendance are less important than the God images which young people hold. The image of God as a God of mercy is associated with higher empathy scores, while the image of God as a God of justice is associated with lower empathy scores

Test of Sum Rules in Nucleon Transfer Reactions

The quantitative consistency of nucleon transfer reactions as a probe of the occupancy of valence orbits in nuclei is tested. Neutron-adding, neutron-removal, and proton-adding transfer reactions were measured on the four stable even Ni isotopes, with particular attention to the cross section determinations. The data were analyzed consistently in terms of the distorted wave Born approximation to yield spectroscopic factors. Valence-orbit occupancies were extracted, utilizing the Macfarlane-French sum rules. The deduced occupancies are consistent with the changing number of valence neutrons, as are the vacancies for protons, both at the level of <5%. While there has been some debate regarding the true “observability” of spectroscopic factors, the present results indicate that empirically they yield self-consistent results

Universal interface width distributions at the depinning threshold

We compute the probability distribution of the interface width at the depinning threshold, using recent powerful algorithms. It confirms the universality classes found previously. In all cases, the distribution is surprisingly well approximated by a generalized Gaussian theory of independant modes which decay with a characteristic propagator G(q)=1/q^(d+2 zeta); zeta, the roughness exponent, is computed independently. A functional renormalization analysis explains this result and allows to compute the small deviations, i.e. a universal kurtosis ratio, in agreement with numerics. We stress the importance of the Gaussian theory to interpret numerical data and experiments.Comment: 4 pages revtex4. See also the following article cond-mat/030146

Valence nucleon populations in the Ni isotopes

Measurements of neutron-adding, neutron-removing, and proton-adding reactions were carried out for the four stable even Ni isotopes. Particular attention was paid to obtaining precise values of the cross sections at the peaks of the angular distributions. Tests with sum rules for the neutron data indicate that the results are self-consistent at the level of a few tenths of a nucleon. Data on proton-adding reactions were also obtained and analyzed with a slightly different method—while these data are also consistent, the ambiguities are larger. The occupancies of the neutron orbits derived from the data, the proton vacancies, and the energy centroids of the neutron, neutron-hole, and proton single-particle excitations are obtained. The data also provide some estimate about the closure of the 0f7/2 shell. The results are compared to shell-model calculations and may serve as a reference point for future exploration

Fermionic massive modes along cosmic strings

The influence on cosmic string dynamics of fermionic massive bound states propagating in the vortex, and getting their mass only from coupling to the string forming Higgs field, is studied. Such massive fermionic currents are numerically found to exist for a wide range of model parameters and seen to modify drastically the usual string dynamics coming from the zero mode currents alone. In particular, by means of a quantization procedure, a new equation of state describing cosmic strings with any kind of fermionic current, massive or massless, is derived and found to involve, at least, one state parameter per trapped fermion species. This equation of state exhibits transitions from subsonic to supersonic regimes while the massive modes are filled.Comment: 27 pages, 15 figures, uses ReVTeX. Shortened version, accepted for publication in Phys. Rev.

Equation of state of cosmic strings with fermionic current-carriers

The relevant characteristic features, including energy per unit length and tension, of a cosmic string carrying massless fermionic currents in the framework of the Witten model in the neutral limit are derived through quantization of the spinor fields along the string. The construction of a Fock space is performed by means of a separation between longitudinal modes and the so-called transverse zero energy solutions of the Dirac equation in the vortex. As a result, quantization leads to a set of naturally defined state parameters which are the number densities of particles and anti-particles trapped in the cosmic string. It is seen that the usual one-parameter formalism for describing the macroscopic dynamics of current-carrying vortices is not sufficient in the case of fermionic carriers.Comment: 30 pages, 15 figures, uses ReVTeX, equation of state corrected, comments and references added. Accepted for publication in Phys. Rev.

Closed Timelike Curves and Holography in Compact Plane Waves

We discuss plane wave backgrounds of string theory and their relation to Goedel-like universes. This involves a twisted compactification along the direction of propagation of the wave, which induces closed timelike curves. We show, however, that no such curves are geodesic. The particle geodesics and the preferred holographic screens we find are qualitatively different from those in the Goedel-like universes. Of the two types of preferred screen, only one is suited to dimensional reduction and/or T-duality, and this provides a ``holographic protection'' of chronology. The other type of screen, relevant to an observer localized in all directions, is constructed both for the compact and non-compact plane waves, a result of possible independent interest. We comment on the consistency of field theory in such spaces, in which there are closed timelike (and null) curves but no closed timelike (or null) geodesics.Comment: 21 pages, 3 figures, LaTe

Preserved endothelium-dependent vasodilation in coronary segments previously treated with balloon angioplasty and intracoronary irradiation

BACKGROUND: Abnormal endothelium-dependent coronary vasomotion has been reported after balloon angioplasty (BA), as well as after intracoronary radiation. However, the long-term effect on coronary vasomotion is not known. The aim of this study was to evaluate the long-term vasomotion of coronary segments treated with BA and brachytherapy. METHODS AND RESULTS: Patients with single de novo lesions treated either with BA followed by intracoronary beta-irradiation (according to the Beta Energy Restenosis Trial-1.5) or with BA alone were eligible. Of these groups, those patients in stable condition who returned for 6-month angiographic follow-up formed the study population (n=19, irradiated group and n=11, control group). Endothelium-dependent coronary vasomotion was assessed by selective infusion of serial doses of acetylcholine (ACh) proximally to the treated area. Mean luminal diameter was calculated by quantitative coronary angiography both in the treated area and in distal segments. Endothelial dysfunction was defined as a vasoconstriction after the maximal dose of ACh (10(-6) mol/L). Seventeen irradiated segments (89.5%) demonstrated normal endothelial function. In contrast, 10 distal nonirradiated segments (53%) and 5 control segments (45%) demonstrated endothelium-dependent vasoconstriction (-19+/-17% and -9.0+/-5%, respectively). Mean percentage of change in mean luminal diameter after ACh was significantly higher in irradiated segments (P=0.01). CONCLUSIONS: Endothelium-dependent vasomotion of coronary segments treated with BA followed by beta-radiation is restored in the majority of stabl