303 research outputs found
Nonadiabatic Superconductivity and Vertex Corrections in Uncorrelated Systems
We investigate the issue of the nonadiabatic superconductivity in
uncorrelated systems. A local approximation is employed coherently with the
weak dependence on the involved momenta. Our results show that nonadiabatic
vertex corrections are never negligible, but lead to a strong suppression of
with respect to the conventional theory. This feature is understood in
terms of the momentum-frequency dependence of the vertex function. In contrast
to strongly correlated systems, where the small -selection probes the
positive part of vertex function, vertex corrections in uncorrelated systems
are essentially negative resulting in an effective reduction of the
superconducting pairing. Our analysis shows that vertex corrections in
nonadiabatic regime can be never disregarded independently of the degree of
electronic correlation in the system.Comment: 4 pages, 3 eps fig
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
Background: Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and rare variants. Array-comparative genomic hybridization (aCGH) offers significant sensitivity for the identification of copy number variants (CNVs), which can act as susceptibility or causal factors for ASD. Methods: The aim of this study was to evaluate both diagnostic yield and clinical impact of aCGH in 329 ASD patients of Italian descent. Results: Pathogenic/likely pathogenic CNVs were identified in 50/329 (15.2%) patients, whereas 89/329 (27.1%) carry variants of uncertain significance. The 10 most enriched gene sets identified by Gene Ontology Enrichment Analysis are primarily involved in neuronal function and synaptic connectivity. In 13/50 (26.0%) patients with pathogenic/likely pathogenic CNVs, the outcome of array-CGH led to the request of 25 additional medical exams which would not have otherwise been prescribed, mainly including brain MRI, EEG, EKG, and/or cardiac ultrasound. A positive outcome was obtained in 12/25 (48.0%) of these additional tests. Conclusions: This study confirms the satisfactory diagnostic yield of aCGH, underscoring its potential for better, more in-depth care of children with autism when genetic results are analyzed also with a focus on patient management
Isotope Effect in the Presence of Magnetic and Nonmagnetic Impurities
The effect of impurities on the isotope coefficient is studied theoretically
in the framework of Abrikosov-Gor'kov approach generalized to account for both
potential and spin-flip scattering in anisotropic superconductors. An
expression for the isotope coefficient as a function of the critical
temperature is obtained for a superconductor with an arbitrary contribution of
spin-flip processes to the total scattering rate and an arbitrary degree of
anisotropy of the superconducting order parameter, ranging from isotropic
s-wave to d-wave and including anisotropic s-wave and mixed (s+d)-wave as
particular cases. It is found that both magnetic and nonmagnetic impurities
enhance the isotope coefficient, the enhancement due to magnetic impurities
being generally greater than that due to nonmagnetic impurities. From the
analysis of the experimental results on La-Sr-Cu-M-O high temperature
superconductor, it is concluded that the symmetry of the pairing state in this
system differs from a pure d-wave.Comment: 4 pages, 3 figure
Nonadiabatic Pauli susceptibility in fullerene compounds
Pauli paramagnetic susceptibility is unaffected by the electron-phonon
interaction in the Migdal-Eliashberg context. Fullerene compounds however do
not fulfill the adiabatic assumption of Migdal's theorem and nonadiabatic
effects are expected to be relevant in these materials. In this paper we
investigate the Pauli spin susceptibility in nonadiabatic regime by following a
conserving approach based on Ward's identity. We find that a sizable
renormalization of due to electron-phonon coupling appears when
nonadiabatic effects are taken into account. The intrinsic dependence of
on the electron-phonon interaction gives rise to a finite and negative isotope
effect which could be experimentally detected in fullerides. In addition, we
find an enhancement of the spin susceptibility with temperature increasing, in
agreement with the temperature dependence of observed in fullerene
compounds. The role of electronic correlation is also discussed.Comment: Revtex, 10 pages, 8 figures include
Poor screening and nonadiabatic superconductivity in correlated systems
In this paper we investigate the role of the electronic correlation on the
hole doping dependence of electron-phonon and superconducting properties of
cuprates. We introduce a simple analytical expression for the one-particle
Green's function in the presence of electronic correlation and we evaluate the
reduction of the screening properties as the electronic correlation increases
by approaching half-filling. The poor screening properties play an important
role within the context of the nonadiabatic theory of superconductivity. We
show that a consistent inclusion of the reduced screening properties in the
nonadiabatic theory can account in a natural way for the - phase
diagram of cuprates. Experimental evidences are also discussed.Comment: 12 Pages, 6 Figures, Accepted on Physical Review
Neuroimaging Evidence of Major Morpho-Anatomical and Functional Abnormalities in the BTBR T+TF/J Mouse Model of Autism
BTBR T+tf/J (BTBR) mice display prominent behavioural deficits analogous to the defining symptoms of autism, a feature that has prompted a widespread use of the model in preclinical autism research. Because neuro-behavioural traits are described with respect to reference populations, multiple investigators have examined and described the behaviour of BTBR mice against that exhibited by C57BL/6J (B6), a mouse line characterised by high sociability and low self-grooming. In an attempt to probe the translational relevance of this comparison for autism research, we used Magnetic Resonance Imaging (MRI) to map in both strain multiple morpho-anatomical and functional neuroimaging readouts that have been extensively used in patient populations. Diffusion tensor tractography confirmed previous reports of callosal agenesis and lack of hippocampal commissure in BTBR mice, and revealed a concomitant rostro-caudal reorganisation of major cortical white matter bundles. Intact inter-hemispheric tracts were found in the anterior commissure, ventro-medial thalamus, and in a strain-specific white matter formation located above the third ventricle. BTBR also exhibited decreased fronto-cortical, occipital and thalamic gray matter volume and widespread reductions in cortical thickness with respect to control B6 mice. Foci of increased gray matter volume and thickness were observed in the medial prefrontal and insular cortex. Mapping of resting-state brain activity using cerebral blood volume weighted fMRI revealed reduced cortico-thalamic function together with foci of increased activity in the hypothalamus and dorsal hippocampus of BTBR mice. Collectively, our results show pronounced functional and structural abnormalities in the brain of BTBR mice with respect to control B6 mice. The large and widespread white and gray matter abnormalities observed do not appear to be representative of the neuroanatomical alterations typically observed in autistic patients. The presence of reduced fronto-cortical metabolism is of potential translational relevance, as this feature recapitulates previously-reported clinical observations
A Combined Study on the Use of the Child Behavior Checklist 1½â5 for Identifying Autism Spectrum Disorders at 18 Months
The capacity of the Child Behavior Checklist 1½â5 (CBCL 1½â5) to identify children with autism spectrum disorder (ASD) at 18 months was tested on 37 children clinically referred for ASD and 46 children at elevated likelihood of developing ASD due to having an affected brother/sister. At 30 months the clinically referred children all received a confirmatory diagnosis, and 10 out of 46 siblings received a diagnosis of ASD. CBCL 1½-5 profiles were compared with a group of matched children with typical development (effect of cognitive level controlled for). The capacity of the CBCL 1½-5 DSM Oriented-Pervasive Developmental Problems scale to differentiate correctly between children diagnosed with ASD and children with typical development appeared dependent on group ascertainment methodology
Tissue print of prostate biopsy: a novel tool in the diagnostic procedure of prostate cancer
<p>Abstract</p> <p>Background</p> <p>Nowadays, the histological examination of prostate core needle biopsies is still regarded as the gold standard in the diagnosis of prostate cancer (PCa). We investigated if the tissue print of core needle biopsy (biopsy print) could be used as adjunctive molecular investigative procedures in conjunction with routine histological examination of biopsy to improve PCa diagnosis.</p> <p>Methods</p> <p>The direct contact of PCa core biopsy to nitrocellulose membrane resulted in the release of a cellular micropeel that was used for downstream analytical procedures.</p> <p>Results</p> <p>By zymogram print-phoresis we demonstrated that matrix metalloproteases MMP-2 and MMP-9 could be visualized in biopsy prints and that the gelatinolytic activity was positively correlated with immunohistochemistry analysis of the same markers in matched bioptic specimens. Moreover, we compared the ability to detect the PCa-associated hypermethylation of GSTP1 promoter in DNA extracted from biopsy prints with those of the corresponding core needle biopsies. Biopsy prints demonstrated the same specificity of biopsies in detecting PCa (50%) while the sensitivity and the positive predictive value were lower than biopsies (56% vs 78% and 63% vs 70%, respectively).</p> <p>Conclusions</p> <p>Biopsy print, combining a molecular point of view to the routinely hystopathological analysis of prostate biopsies, should be a useful tool to improve the diagnosis of PCa.</p
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
<p>Abstract</p> <p>Background</p> <p>SHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key functional elements to the PSD and to the synapse, including components of ι-amino-3-hydroxyl-5-methyl-4-isoxazole-propionic acid (AMPA), metabotropic glutamate (mGlu) and <it>N</it>-methyl-D-aspartic acid (NMDA) glutamate receptors, as well as cytoskeletal elements. Loss of a functional copy of the <it>SHANK3 </it>gene leads to the neurobehavioral manifestations of 22q13 deletion syndrome and/or to autism spectrum disorders. The goal of this study was to examine the effects of haploinsufficiency of full-length <it>Shank3 </it>in mice, focusing on synaptic development, transmission and plasticity, as well as on social behaviors, as a model for understanding <it>SHANK3 </it>haploinsufficiency in humans.</p> <p>Methods</p> <p>We used mice with a targeted disruption of <it>Shank3 </it>in which exons coding for the ankyrin repeat domain were deleted and expression of full-length Shank3 was disrupted. We studied synaptic transmission and plasticity by multiple methods, including patch-clamp whole cell recording, two-photon time-lapse imaging and extracellular recordings of field excitatory postsynaptic potentials. We also studied the density of GluR1-immunoreactive puncta in the CA1 stratum radiatum and carried out assessments of social behaviors.</p> <p>Results</p> <p>In <it>Shank3 </it>heterozygous mice, there was reduced amplitude of miniature excitatory postsynaptic currents from hippocampal CA1 pyramidal neurons and the input-output (I/O) relationship at Schaffer collateral-CA1 synapses in acute hippocampal slices was significantly depressed; both of these findings indicate a reduction in basal neurotransmission. Studies with specific inhibitors demonstrated that the decrease in basal transmission reflected reduced AMPA receptor-mediated transmission. This was further supported by the observation of reduced numbers of GluR1-immunoreactive puncta in the stratum radiatum. Long-term potentiation (LTP), induced either with θ-burst pairing (TBP) or high-frequency stimulation, was impaired in <it>Shank3 </it>heterozygous mice, with no significant change in long-term depression (LTD). In concordance with the LTP results, persistent expansion of spines was observed in control mice after TBP-induced LTP; however, only transient spine expansion was observed in <it>Shank3 </it>heterozygous mice. Male <it>Shank3 </it>heterozygotes displayed less social sniffing and emitted fewer ultrasonic vocalizations during interactions with estrus female mice, as compared to wild-type littermate controls.</p> <p>Conclusions</p> <p>We documented specific deficits in synaptic function and plasticity, along with reduced reciprocal social interactions in <it>Shank3 </it>heterozygous mice. Our results are consistent with altered synaptic development and function in <it>Shank3 </it>haploinsufficiency, highlighting the importance of Shank3 in synaptic function and supporting a link between deficits in synapse function and neurodevelopmental disorders. The reduced glutamatergic transmission that we observed in the <it>Shank3 </it>heterozygous mice represents an interesting therapeutic target in <it>Shank3</it>-haploinsufficiency syndromes.</p
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Register-based cumulative prevalence of Autism Spectrum Disorders during childhood and adolescence in Central Italy
Background: Studies have evaluated the prevalence of Autism Spectrum Disorders (ASD), focusing on different ages during childhood and adolescence. How cumulative prevalence increases before adulthood remains unclear.
Methods: We used data from the Autism Register of the Regional Reference Centre for Autism in L'Aquila, Central Italy, to retrieve information on individuals born in 2001-2012 with any of the inclusion diagnoses of ASD (DSM criteria) for the period 2001 to 2018. Cumulative prevalence on L'Aquila district population data was calculated as percentages for three-year age strata.
Results: All prevalence data were estimated at December 31st, 2018. The overall crude prevalence was 0.95% (352 cases over 36938 population). Cumulative prevalence was 1.19% among those born in 2001-2003 (15 to 17 years of follow up), 1.15% among those born in 2004-2006 (12 to 14 years of follow up), 1.04% among those born in 2007-2009 (9 to 11 years of follow up), 0.80% among those born in 2010-2012 (6 to 8 years of follow up), and 0.57% among those born in 2013-2015 (3 to 5 years of follow up). The proportion of ASD diagnoses until the age of 5 years, compared to the group diagnosed 6 to 8 years of age, showed a significant increasing trend over calendar time (53.6% for those born in 2001-2003, to 77.0% for those born in 2010-2012).
Conclusions: Cumulative prevalence by time period provides a better understanding of ASD occurrence than a point prevalence. We did not find any difference in frequency of diagnosis comparing age strata and year of birth, suggesting that frequencies of ASD diagnosis remained roughly constant from 2001 to 2015. Results show that cumulative prevalence of autism diagnosis does not substantially change over time; instead, diagnosis of ASD is more likely at earliest ages over time, although new cases of ASD are also detected at later ages
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