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This study reports the association of a mutant form of contactin-associated protein-like 2 (CASPR2) and epilepsy, cortical dysplasia, and developmental decay among children in an Old Order Amish population. It suggests that mutant CASPR2 causes epilepsy and influences cortical architecture. This study reports the association of a mutant form of contactin-associated protein-like 2 (CASPR2) and epilepsy, cortical dysplasia, and developmental decay among children in an Old Order Amish population. Most epileptic disorders can be traced to an abnormality of cortical architecture, channel-mediated currents, neuronal growth and differentiation, or cerebral metabolism. 1 , 2 In most cases, however, the underlying biologic complexity of epilepsy precludes the identification of the genetic cause, and 65 to 79 percent of recurrent seizure syndromes remain unexplained. 3 Microarray analysis of DNA samples can be a powerful tool for revealing a genetic lesion in well-defined families. We have used this approach in Old Order Amish families, some members of which have a clinical and neuropathological phenotype that we designate as the cortical dysplasia–focal epilepsy (CDFE) syndrome. We identified . . .

The simultaneous growth of both nanodiamonds and graphene on copper samples is described for the first time. A PE-CVD process is used to synthesize graphene layers and nanodiamond clusters from a hydrogen/methane gas mixture as it is typically done successfully in thermal CVD processes for graphene synthesis. However, the standard thermal CVD process is not without problems since the deposition of graphene is affected by the evaporation of a notable amount of copper caused by the slow temperature increase typical for thermal CVD resulting in a long process time. In sharp contrast, the synthesis of graphene by PE-CVD can circumvent this problem by substantially shortening the process time at holding out the prospect of a lower substrate temperature. The reduced thermal load and the possibility to industrially scale-up the PE-CVD process makes it a very attractive alternative to the thermal CVD process with respect to the graphene production in the future. Nanodiamonds are synthesized in PE-CVD reactors for a long time because these processes offer a high degree of control over the film’s nanostructure and simultaneously providing a significant high deposition rate. To model the co-deposition process, the three relevant macroscopic parameters (pressure, gas mixture and microwave power) are correlated with three relevant process properties (plasma ball size, substrate temperature and C 2 /H α -ratio) and the influence on the quality of the deposited carbon allotropes is investigated. For the evaluation of the graphene as well as the nanodiamond quality, Raman spectroscopy used whereas the plasma properties are measured by optical methods. It is found that the diamond nucleation can be influenced by the C 2 /H α -ratio in the plasma, while the graphene quality remains mostly unchanged by this parameter. Moreover it is derived from the experimental data that the direct plasma contact with the copper surface is beneficial for the nucleation of the diamond while the growth and quality of the graphene benefits from a larger distance to the plasma. Therefore, this work presents a basis for a method to tailor the deposition of graphene–diamond hybrid films using a MW PE-CVD process or to suppress the diamond deposition entirely if desired.

With recent developments in parallel supercomputing architecture, many core, multi-core, and GPU processors are now commonplace, resulting in more levels of parallelism, memory hierarchy, and programming complexity. It has been necessary to adapt the MILC code to these new processors starting with NVIDIA GPUs, and more recently, the Intel Xeon Phi processors. We report on our efforts to port and optimize our code for the Intel Knights Landing architecture. We consider performance of the MILC code with MPI and OpenMP, and optimizations with QOPQDP and QPhiX. For the latter approach, we concentrate on the staggered conjugate gradient and gauge force. We also consider performance on recent NVIDIA GPUs using the QUDA library.

We report the status of an ongoing lattice-QCD calculation of form factors for exclusive semileptonic decays of B mesons with both charged currents ( B → πlv , Bs → Klv ) and neutral currents ( B → πl + l - , B → Kl + l - ). The results are important for constraining or revealing physics beyond the Standard Model. This work uses MILC’s (2+1 + 1)-flavor ensembles with the HISQ action for the sea and light valence quarks and the clover action in the Fermilab interpretation for the b quark. Simulations are carried out at three lattice spacings down to 0.088 fm, with both physical and unphysical sea-quark masses. We present preliminary results for correlation-function fits.

We present and discuss the capability of grain boundaries to induce order in block copolymer thin films between horizontally and vertically assembled block copolymer grains. The system we use as a proof of principle is a thermally annealed 23.4 nm full-pitch lamellar Polystyrene-block-polymethylmetacrylate (PS-b-PMMA) di-block copolymer. In this paper, grain-boundary-induced alignment is achieved by the mechanical removal of the neutral brush layer via atomic force microscopy (AFM). The concept is also confirmed by a mask-less e-beam direct writing process. An elongated grain of vertically aligned lamellae is trapped between two grains of horizontally aligned lamellae. This configuration leads to the formation of 90° twist grain boundaries. The features maintain their orientation on a characteristic length scale, which is described by the material’s correlation length ξ. As a result of an energy minimization process, the block copolymer domains in the vertically aligned grain orient perpendicularly to the grain boundary. The energy-minimizing feature is the grain boundary itself. The width of the manipulated area (e.g., the horizontally aligned grain) does not represent a critical process parameter.

Lattice gauge theory was formulated by Kenneth Wilson in 1974. In the ensuing decades, improvements in actions, algorithms, and computers have enabled tremendous progress in QCD, to the point where lattice calculations can yield sub-percent level precision for some quantities. Beyond QCD, lattice methods are being used to explore possible beyond the standard model (BSM) theories of dynamical symmetry breaking and supersymmetry. We survey progress in extracting information about the parameters of the standard model by confronting lattice calculations with experimental results and searching for evidence of BSM effects.

• Background Implantable cardioverter defibrillators reduce mortality in patients at high risk for sudden cardiac death and in patients with heart failure. Patients with defibrillators often experience psychological distress and poor quality of life, which can potentiate pathological processes that increase the risk for sudden cardiac death. To achieve the full benefits of the defibrillators, patients must maintain their psychological status and quality of life. • Objectives To review the research on psychological status and quality of life of patients with implantable cardioverter defibrillators and suggest nursing interventions to improve the patients’ health. • Method Searches of PubMed were used to find articles on depression, anxiety, and quality of life in patients with implantable cardioverter defibrillators. • Results Poor quality of life is associated with anxiety and depression in patients with implantable cardioverter defibrillators. Discharges of the devices have adverse consequences for patients’ psychological status and quality of life. Younger patients are at highest risk for psychological distress and poor quality of life after implantation. Longitudinal research would facilitate determining the course of the changes in psychological status and quality of life during the time patients have the defibrillators. More intensive intervention may be necessary for the most vulnerable recipients: patients who are young, have experienced shocks, and are in psychological distress. • Conclusions Poor quality of life and depression are common in patients with implantable cardioverter defibrillators. Nursing interventions to reduce psychological distress and improve quality of life may reduce morbidity and mortality in these patients. Additional research is needed to determine effective interventions.

We review lattice results related to pion, kaon, D -meson, B -meson, and nucleon physics with the aim of making them easily accessible to the nuclear and particle physics communities. More specifically, we report on the determination of the light-quark masses, the form factor f + ( 0 ) arising in the semileptonic K → π transition at zero momentum transfer, as well as the decay constant ratio f K / f π and its consequences for the CKM matrix elements V us and V ud . Furthermore, we describe the results obtained on the lattice for some of the low-energy constants of S U ( 2 ) L × S U ( 2 ) R and S U ( 3 ) L × S U ( 3 ) R Chiral Perturbation Theory. We review the determination of the B K parameter of neutral kaon mixing as well as the additional four B parameters that arise in theories of physics beyond the Standard Model. For the heavy-quark sector, we provide results for m c and m b as well as those for D - and B -meson decay constants, form factors, and mixing parameters. These are the heavy-quark quantities most relevant for the determination of CKM matrix elements and the global CKM unitarity-triangle fit. We review the status of lattice determinations of the strong coupling constant α s . Finally, in this review we have added a new section reviewing results for nucleon matrix elements of the axial, scalar and tensor bilinears, both isovector and flavor diagonal.

We review lattice results related to pion, kaon, D-meson, B-meson, and nucleon physics with the aim of making them easily accessible to the nuclear and particle physics communities. More specifically, we report on the determination of the light-quark masses, the form factor f+(0) arising in the semileptonic K→π transition at zero momentum transfer, as well as the decay constant ratio fK/fπ and its consequences for the CKM matrix elements Vus and Vud. Furthermore, we describe the results obtained on the lattice for some of the low-energy constants of SU(2)L×SU(2)R and SU(3)L×SU(3)R Chiral Perturbation Theory. We review the determination of the BK parameter of neutral kaon mixing as well as the additional four B parameters that arise in theories of physics beyond the Standard Model. For the heavy-quark sector, we provide results for mc and mb as well as those for the decay constants, form factors, and mixing parameters of charmed and bottom mesons and baryons. These are the heavy-quark quantities most relevant for the determination of CKM matrix elements and the global CKM unitarity-triangle fit. We review the status of lattice determinations of the strong coupling constant αs. We consider nucleon matrix elements, and review the determinations of the axial, scalar and tensor bilinears, both isovector and flavor diagonal. Finally, in this review we have added a new section reviewing determinations of scale-setting quantities.

We review lattice results related to pion, kaon, D-meson, B-meson, and nucleon physics with the aim of making them easily accessible to the nuclear and particle physics communities. More specifically, we report on the determination of the light-quark masses, the form factor f+(0) arising in the semileptonic K→π transition at zero momentum transfer, as well as the decay constant ratio fK/fπ and its consequences for the CKM matrix elements Vus and Vud. Furthermore, we describe the results obtained on the lattice for some of the low-energy constants of SU(2)L×SU(2)R and SU(3)L×SU(3)R Chiral Perturbation Theory. We review the determination of the BK parameter of neutral kaon mixing as well as the additional four B parameters that arise in theories of physics beyond the Standard Model. For the heavy-quark sector, we provide results for mc and mb as well as those for D- and B-meson decay constants, form factors, and mixing parameters. These are the heavy-quark quantities most relevant for the determination of CKM matrix elements and the global CKM unitarity-triangle fit. We review the status of lattice determinations of the strong coupling constant αs. Finally, in this review we have added a new section reviewing results for nucleon matrix elements of the axial, scalar and tensor bilinears, both isovector and flavor diagonal.