Forecasting stroke-like episodes and outcomes in mitochondrial disease.

In this retrospective, multicentre, observational cohort study, we sought to determine the clinical, radiological, EEG, genetics and neuropathological characteristics of mitochondrial stroke-like episodes and to identify associated risk predictors. Between January 1998 and June 2018, we identified 111 patients with genetically determined mitochondrial disease who developed stroke-like episodes. Post-mortem cases of mitochondrial disease (n = 26) were identified from Newcastle Brain Tissue Resource.

CHIME: CMOS-Hosted Microelectrodes for Massively Scalable Neuronal Recordings.

Mammalian brains consist of 10s of millions to 100s of billions of neurons operating at millisecond time scales, of which current recording techniques only capture a tiny fraction. Recording techniques capable of sampling neural activity at high spatiotemporal resolution have been difficult to scale. The most intensively studied mammalian neuronal networks, such as the neocortex, show a layered architecture, where the optimal recording technology samples densely over large areas.

Massively parallel microwire arrays integrated with CMOS chips for neural recording.

Multi-channel electrical recordings of neural activity in the brain is an increasingly powerful method revealing new aspects of neural communication, computation, and prosthetics. However, while planar silicon-based CMOS devices in conventional electronics scale rapidly, neural interface devices have not kept pace. Here, we present a new strategy to interface silicon-based chips with three-dimensional microwire arrays, providing the link between rapidly-developing electronics and high density neural interfaces.

Metastatic Basal Cell Carcinoma.

Objectives: Diagnosis of metastatic basal cell carcinoma (BCC) remains challenging, in part due to its rarity. With the advent of molecularly targeted therapies, recognition of this entity is more important than ever.

Methods: We identified 11 cases of metastatic BCC over a 13-year period.

Erratum to: Measurement of the boson polarisation in events from collisions at in the lepton + jets channel with ATLAS.

[This corrects the article DOI: 10.1140/epjc/s10052-017-4819-4.].

CIC-NUTM1 fusion: A case which expands the spectrum of NUT-rearranged epithelioid malignancies.

NUT carcinoma (NC) shows very aggressive clinical behavior, occurs predominantly in the thorax and head and neck region of children and adults, and is defined by the presence of NUT (aka NUTM1) rearrangement, mostly BRD4-NUTM1 fusion resulting from t(15;19)(q13; p13.1). So-called "NUT variants" harbor alternate fusions between NUTM1 and BRD3, NSD3, ZNF532, or unknown partners.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers.

Mutations in Cytosine-5 tRNA Methyltransferases Impact Mobile Element Expression and Genome Stability at Specific DNA Repeats.

The maintenance of eukaryotic genome stability is ensured by the interplay of transcriptional as well as post-transcriptional mechanisms that control recombination of repeat regions and the expression and mobility of transposable elements. We report here that mutations in two (cytosine-5) RNA methyltransferases, Dnmt2 and NSun2, impact the accumulation of mobile element-derived sequences and DNA repeat integrity in Drosophila. Loss of Dnmt2 function caused moderate effects under standard conditions, while heat shock exacerbated these effects.

Atypical periodic paralysis and myalgia: A novel phenotype.

Objective: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor () gene mutations.

Methods: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-generation sequencing and/or targeted Sanger sequencing was performed.

Measurement of the -boson mass in pp collisions at with the ATLAS detector.

A measurement of the mass of the boson is presented based on proton-proton collision data recorded in 2011 at a centre-of-mass energy of 7 TeV with the ATLAS detector at the LHC, and corresponding to of integrated luminosity. The selected data sample consists of candidates in the channel and candidates in the channel. The -boson mass is obtained from template fits to the reconstructed distributions of the charged lepton transverse momentum and of the boson transverse mass in the electron and muon decay channels, yielding where the first uncertainty is statistical, the second corresponds to the experimental systematic uncertainty, and the third to the physics-modelling systematic uncertainty.

Measurements of the production cross section of a [Formula: see text] boson in association with jets in collisions at [Formula: see text] TeV with the ATLAS detector.

Measurements of the production cross section of a [Formula: see text] boson in association with jets in proton-proton collisions at [Formula: see text] TeV are presented, using data corresponding to an integrated luminosity of 3.16 fb[Formula: see text] collected by the ATLAS experiment at the CERN Large Hadron Collider in 2015. Inclusive and differential cross sections are measured for events containing a [Formula: see text] boson decaying to electrons or muons and produced in association with up to seven jets with [Formula: see text] GeV and [Formula: see text].

Fiducial, total and differential cross-section measurements of -channel single top-quark production in collisions at 8 TeV using data collected by the ATLAS detector.

Detailed measurements of -channel single top-quark production are presented. They use 20.2 fb[Formula: see text] of data collected by the ATLAS experiment in proton-proton collisions at a centre-of-mass energy of 8 TeV at the LHC.

Topological cell clustering in the ATLAS calorimeters and its performance in LHC Run 1.

The reconstruction of the signal from hadrons and jets emerging from the proton-proton collisions at the Large Hadron Collider (LHC) and entering the ATLAS calorimeters is based on a three-dimensional topological clustering of individual calorimeter cell signals. The cluster formation follows cell signal-significance patterns generated by electromagnetic and hadronic showers. In this, the clustering algorithm implicitly performs a topological noise suppression by removing cells with insignificant signals which are not in close proximity to cells with significant signals.

Measurements of electroweak [Formula: see text] production and constraints on anomalous gauge couplings with the ATLAS detector.

Measurements of the electroweak production of a boson in association with two jets at high dijet invariant mass are performed using [Formula: see text] 7 and 8 [Formula: see text] proton-proton collision data produced by the Large Hadron Collider, corresponding respectively to 4.7 and 20.2 fb[Formula: see text] of integrated luminosity collected by the ATLAS detector.

Reconstruction of primary vertices at the ATLAS experiment in Run 1 proton-proton collisions at the LHC.

This paper presents the method and performance of primary vertex reconstruction in proton-proton collision data recorded by the ATLAS experiment during Run 1 of the LHC. The studies presented focus on data taken during 2012 at a centre-of-mass energy of [Formula: see text] TeV. The performance has been measured as a function of the number of interactions per bunch crossing over a wide range, from one to seventy.

Performance of the ATLAS trigger system in 2015.

During 2015 the ATLAS experiment recorded [Formula: see text] of proton-proton collision data at a centre-of-mass energy of [Formula: see text]. The ATLAS trigger system is a crucial component of the experiment, responsible for selecting events of interest at a recording rate of approximately 1 kHz from up to 40 MHz of collisions. This paper presents a short overview of the changes to the trigger and data acquisition systems during the first long shutdown of the LHC and shows the performance of the trigger system and its components based on the 2015 proton-proton collision data.

Search for lepton-flavour-violating decays of the Higgs and bosons with the ATLAS detector.

Direct searches for lepton flavour violation in decays of the Higgs and bosons with the ATLAS detector at the LHC are presented. The following three decays are considered: [Formula: see text], [Formula: see text], and [Formula: see text]. The searches are based on the data sample of proton-proton collisions collected by the ATLAS detector corresponding to an integrated luminosity of 20.

Search for new phenomena in events containing a same-flavour opposite-sign dilepton pair, jets, and large missing transverse momentum in [Formula: see text] [Formula: see text][Formula: see text] collisions with the ATLAS detector.

Two searches for new phenomena in final states containing a same-flavour opposite-sign lepton (electron or muon) pair, jets, and large missing transverse momentum are presented. These searches make use of proton-proton collision data, collected during 2015 and 2016 at a centre-of-mass energy [Formula: see text] [Formula: see text] by the ATLAS detector at the large hadron collider, which correspond to an integrated luminosity of [Formula: see text]. Both searches target the pair production of supersymmetric particles, squarks or gluinos, which decay to final states containing a same-flavour opposite-sign lepton pair via one of two mechanisms: a leptonically decaying boson in the final state, leading to a peak in the dilepton invariant-mass distribution around the boson mass; and decays of neutralinos (e.

Measurements of top-quark pair differential cross-sections in the [Formula: see text] channel in collisions at [Formula: see text] TeV using the ATLAS detector.

This article presents measurements of [Formula: see text] differential cross-sections in a fiducial phase-space region, using an integrated luminosity of 3.2 fb[Formula: see text] of proton-proton data at a centre-of-mass energy of [Formula: see text] TeV recorded by the ATLAS experiment at the LHC in 2015. Differential cross-sections are measured as a function of the transverse momentum and absolute rapidity of the top quark, and of the transverse momentum, absolute rapidity and invariant mass of the [Formula: see text] system.

Electron efficiency measurements with the ATLAS detector using 2012 LHC proton-proton collision data.

This paper describes the algorithms for the reconstruction and identification of electrons in the central region of the ATLAS detector at the Large Hadron Collider (LHC). These algorithms were used for all ATLAS results with electrons in the final state that are based on the 2012 collision data produced by the LHC at [Formula: see text] = 8 [Formula: see text]. The efficiency of these algorithms, together with the charge misidentification rate, is measured in data and evaluated in simulated samples using electrons from [Formula: see text], [Formula: see text] and [Formula: see text] decays.

Measurement of the boson polarisation in [Formula: see text] events from collisions at [Formula: see text] = 8 TeV in the lepton + jets channel with ATLAS.

This paper presents a measurement of the polarisation of bosons from [Formula: see text] decays, reconstructed in events with one high-[Formula: see text] lepton and at least four jets. Data from collisions at the LHC were collected at [Formula: see text] = 8 TeV and correspond to an integrated luminosity of 20.2 fb[Formula: see text].

Performance of algorithms that reconstruct missing transverse momentum in [Formula: see text]= 8 TeV proton-proton collisions in the ATLAS detector.

The reconstruction and calibration algorithms used to calculate missing transverse momentum ([Formula: see text] ) with the ATLAS detector exploit energy deposits in the calorimeter and tracks reconstructed in the inner detector as well as the muon spectrometer. Various strategies are used to suppress effects arising from additional proton-proton interactions, called pileup, concurrent with the hard-scatter processes. Tracking information is used to distinguish contributions from the pileup interactions using their vertex separation along the beam axis.

Measurement of jet activity produced in top-quark events with an electron, a muon and two -tagged jets in the final state in collisions at [Formula: see text] TeV with the ATLAS detector.

Measurements of jet activity in top-quark pair events produced in proton-proton collisions are presented, using 3.2 fb[Formula: see text] of collision data at a centre-of-mass energy of 13 TeV collected by the ATLAS experiment at the Large Hadron Collider. Events are chosen by requiring an opposite-charge [Formula: see text] pair and two -tagged jets in the final state.