Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells

AbstractWe determined the DNA sequence of the adenylosuccinate lyase (ASL) gene from a 13 year-old female, who showed a reduced ASL enzymatic activity in lymphocytes and red blood cells and suffered from severe psychomotor retardation. The patient was the offspring of a non-consanguineous marriage. She was found to be compound heterozygous for two missense-mutations located on different alleles (C300–G and G1266–T): the first mutation replaces Pro75 by Ala, the second mutation replaces Asp397 by Tyr

Controlling Magnonic Spin Current through Magnetic Anisotropy and Gilbert Damping

The magnon propagation length, (MPL) of a ferro/ferrimagnet (FM) is one of the key factors that controls the generation and propagation of thermally-driven spin current in FM/heavy metal (HM) bilayer based spincaloritronic devices. Theory predicts that for the FM layer, MPL is inversely proportional to the Gilbert damping (alpha) and the square root of the effective magnetic anisotropy constant (K_eff). However, direct experimental evidence of this relationship is lacking. To experimentally confirm this prediction, we employ a combination of longitudinal spin Seebeck effect (LSSE), transverse susceptibility, and ferromagnetic resonance experiments to investigate the temperature evolution of MPL and establish its correlation with the effective magnetic anisotropy field, H_K^eff (proportional to K_eff) and alpha in Tm3Fe5O12 (TmIG)/Pt bilayers. We observe concurrent drops in the LSSE voltage and MPL below 200 K in TmIG/Pt bilayers regardless of TmIG film thickness and substrate choice and attribute it to the noticeable increases in H_K^eff and alpha that occur within the same temperature range. This study not only highlights the ability to manipulate MPL by controlling H_K^eff and alpha in FM/HM based spincaloritronic nanodevices, but also shows that the tuning of alpha is more effective than H_K^eff in controlling MPL and, hence, the spincaloritronic efficiency.Comment: 5 main text figure

Pilot study: potential transcription markers for adult attention-deficit hyperactivity disorder in whole blood

Attention-deficit hyperactivity disorder (ADHD) is a common behavioural disorder that affects not only children and adolescents but also adults; however, diagnosis of adult ADHD is difficult because patients seem to have reduced externalized behaviour. ADHD is a multifactorial disorder in which many genes, all with small effects, are thought to cause the disorder in the presence of unfavourable environmental conditions. Therefore, in this pilot study, we explored the expression profile of a list of previously established candidate genes in peripheral blood samples from adult ADHD subjects (n=108) and compared these results with those of healthy controls (n=35). We demonstrate that combining the gene expression levels of dopamine transporter (SLC6A3), dopamine D5 receptor, tryptophan hydroxylase-1, and SNAP25 as predictors in a regression model resulted in sensitivity and specificity of over 80% (ROC: max R 2=0.587, AUC=0.917, P<0.001, 95% CI: 0.900-0.985). In conclusion, the combination of these four genes could represent a potential method for estimating risk and could be of diagnostic value for ADHD. Nevertheless, further investigation in a larger independent population including different subtypes of ADHD (inattentive, hyperactive, or combined type) patients is required to obtain more specific sets of biomarkers for each subtype as well as to differentiate between child, adolescent, and adulthood form

Ab initio study of element segregation and oxygen adsorption on PtPd and CoCr binary alloy surfaces

The segregation behavior of the bimetallic alloys PtPd and CoCr in the case of bare surfaces and in the presence of an oxygen ad-layer has been studied by means of first-principles modeling based on density-functional theory (DFT). For both systems, change of the d-band filling due to charge transfer between the alloy components, resulting in a shift of the d-band center of surface atoms compared to the pure components, drives the surface segregation and governs the chemical reactivity of the bimetals. In contrast to previous findings but consistent with analogous PtNi alloy systems, enrichment of Pt atoms in the surface layer and of Pd atoms in the first subsurface layer has been found in Pt-rich PtPd alloy, despite the lower surface energy of pure Pd compared to pure Pt. Similarly, Co surface and Cr subsurface segregation occurs in Co-rich CoCr alloys. However, in the presence of adsorbed oxygen, Pd and Cr occupy preferentially surface sites due to their lower electronegativity and thus stronger oxygen affinity compared to Pt and Co, respectively. In either cases, the calculated oxygen adsorption energies on the alloy surfaces are larger than on the pure components when the more noble components are present in the subsurface layers

Cracking the code of oscillatory activity

Neural oscillations are ubiquitous measurements of cognitive processes and dynamic routing and gating of information. The fundamental and so far unresolved problem for neuroscience remains to understand how oscillatory activity in the brain codes information for human cognition. In a biologically relevant cognitive task, we instructed six human observers to categorize facial expressions of emotion while we measured the observers' EEG. We combined state-of-the-art stimulus control with statistical information theory analysis to quantify how the three parameters of oscillations (i.e., power, phase, and frequency) code the visual information relevant for behavior in a cognitive task. We make three points: First, we demonstrate that phase codes considerably more information (2.4 times) relating to the cognitive task than power. Second, we show that the conjunction of power and phase coding reflects detailed visual features relevant for behavioral response-that is, features of facial expressions predicted by behavior. Third, we demonstrate, in analogy to communication technology, that oscillatory frequencies in the brain multiplex the coding of visual features, increasing coding capacity. Together, our findings about the fundamental coding properties of neural oscillations will redirect the research agenda in neuroscience by establishing the differential role of frequency, phase, and amplitude in coding behaviorally relevant information in the brai