Direct observations of electrochemically induced intergranular cracking in polycrystalline NMC811 particles

Establishing the nature of crack generation, formation, and propagation is paramount to understanding the degradation modes that govern decline in battery performance. Cracking has several possible origins; however, it can be classified in two general cases: mechanically induced, during manufacturing, or electrochemically induced, during operation. Accurate and repeatable tracking of operational cracking to sequentially image the same material as it undergoes cracking is highly challenging; observing these features requires the highest resolutions possible for 3D imaging techniques, necessitating very small sample geometry, while also achieving realistic electrochemical performance. Here, we present a technique in which particle cracking can be completely attributed to electrochemical stimulation via sequential ex situ imaging in a laboratory X-ray nano computed tomography (CT) instrument. This technique preserves the mechanical and electrochemical response of each particle without inducing damage in the particles except for the effects of high voltage. Significant cracking within the core of secondary particles was observed upon the electrochemical delithiation of NMC811, which propagated radially. As X-ray computed tomography allows for imaging of the particle cores, the particles were not required to be modified/milled, guaranteeing any synthesis induced strain in the particles was maintained during the whole technique, resulting in an observation that contrasts crystallographic data, suggesting a significant volume expansion of the secondary particles

Weight change associated with antiepileptic drugs

Aim To investigate antiepileptic drug (AED)-related weight changes in patients with epilepsy through a retrospective observational study. Method We analysed the anonymised electronic primary care records of 1.1 million adult patients in Wales. We included patients aged 18 years and over with a diagnosis of epilepsy, whose body weight had been measured up to 12 months before starting, and between 3 and 12 months after starting, one of five AEDs. We calculated the weight difference after starting the AED for each patient. Results 1423 patients were identified in total. The mean difference between body weight after and before starting each AED (together with 95% CI and p values for no difference) were: carbamazepine (CBZ) 0.43 (−0.19 to 1.05) p=0.17; lamotrigine (LTG) 0.31 (−0.38 to 1.00) p=0.38; levetiracetam (LEV) 1.00 (0.16 to 1.84) p=0.02; sodium valproate (VPA) 0.74 (0.10 to 1.38) p=0.02; topiramate (TPM) −2.30 (−4.27 to −0.33) p=0.02. Conclusions LEV and VPA were associated with significant weight gain, TPM was associated with significant weight loss, and LTG and CBZ were not associated with significant weight change

Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes

Generalised epilepsy with febrile seizures plus (GEFS+) is the most studied familial epilepsy syndrome. However, characteristics of UK families have not previously been reported. Among the first 80 families recruited to our families study, four broad subphenotypes were identified: families with classical GEFS+; families with borderline GEFS+; families with unclassified epilepsy; and families with an alternative syndromal diagnosis. Borderline GEFS+ families shared many characteristics of classical GEFS+ families—such as prominent febrile seizures plus and early onset febrile seizures—but included more adults with focal epilepsies (rather than the idiopathic generalised epilepsies predominating in GEFS+) and double the prevalence of migraine. Thus the authors believe that a novel and robust familial epilepsy phenotype has been identified. Subcategorising families with epilepsy is helpful in targeting both clinical and research resources. Most families with GEFS+ have no identified causal mutation, and so predicting genetic homogeneity by identifying endophenotypes becomes more important

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy

From MDPI via Jisc Publications RouterHistory: accepted 2021-05-25, pub-electronic 2021-06-02Publication status: PublishedFunder: Medical Research Council; Grant(s): 1916606, IS-BRC-1215-20007, BB/N000258/1Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate the pathogenicity of more deeply intronic variants. Here, we present three patients with HCM and intronic splice-affecting MYBPC3 variants and analyse the impact of variants on splicing using in vitro minigene assays. We show that the three variants, a novel c.927-8G>A variant and the previously reported c.1624+4A>T and c.3815-10T>G variants, result in MYBPC3 splicing errors. Analysis of blood-derived patient RNA for the c.3815-10T>G variant revealed only wild type spliced product, indicating that mis-spliced transcripts from the mutant allele are degraded. These data indicate that the c.927-8G>A variant of uncertain significance and likely benign c.3815-10T>G should be reclassified as likely pathogenic. Furthermore, we find shortcomings in commonly applied bioinformatics strategies to prioritise variants impacting MYBPC3 splicing and re-emphasise the need for functional assessment of variants of uncertain significance in diagnostic testing

Psychiatric disorders, myoclonus dystonia and SGCE:An international study

OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of psychiatric disorders amongst SGCE mutation-positive populations. We analyzed the psychiatric data from four international centers, forming the largest cohort to date, to further determine the extent and type of psychiatric disorders in M-D.METHODS: Psychiatric data from SGCE mutation-positive M-D cohorts, collected by movement disorder specialists in the Netherlands, United Kingdom, United States, and Germany, were analyzed. These data were collected using standardized, systematic questionnaires allowing classification of symptoms according to Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) criteria. Based on motor findings and SGCE mutation analysis, participants were classified into one of three groups: manifesting carriers, nonmanifesting carriers and noncarriers.RESULTS: Data from 307 participants were evaluated (140 males, 167 females, mean age at examination: 42.5 years). Two-thirds of motor affected mutation carriers (n = 132) had ≥1 psychiatric diagnosis, specific, and social phobias being most common followed by alcohol dependence and obsessive-compulsive disorder (OCD). Compared to familial controls, affected mutation carriers had significantly elevated overall rates of psychiatric disorders (P &lt; 0.001). The most significant differences were observed with alcohol dependence (P &lt; 0.001), OCD (P &lt; 0.001), social and specific phobias (P &lt; 0.001).INTERPRETATION: M-D due to SGCE mutations is associated with specific psychiatric disorders, most commonly OCD, anxiety-related disorders, and alcohol dependence. These suggest either a potential pleiotropic function for SGCE within the central nervous system or a secondary effect of the motor disorder.</p

Estimating density of mountain hares using distance sampling: a comparison of daylight visual surveys, night-time thermal imaging and camera traps

Surveying cryptic, nocturnal animals is logistically challenging. Consequently, density estimates may be imprecise and uncertain. Survey innovations mitigate ecological and observational difficulties contributing to estimation variance. Thus, comparisons of survey techniques are critical to evaluate estimates of abundance. We simultaneously compared three methods for observing mountain hare Lepus timidus using Distance sampling to estimate abundance. Daylight visual surveys achieved 41 detections, estimating density at 14.3 hares km–2 (95%CI 6.3–32.5) resulting in the lowest estimate and widest confidence interval. Night-time thermal imaging achieved 206 detections, estimating density at 12.1 hares km–2 (95%CI 7.6–19.4). Thermal imaging captured more observations at furthest distances, and detected larger group sizes. Camera traps achieved 3705 night-time detections, estimating density at 22.6 hares km–2 (95%CI 17.1–29.9). Between the methods, detections were spatially correlated, although the estimates of density varied. Our results suggest that daylight visual surveys tended to underestimate density, failing to reflect nocturnal activity. Thermal imaging captured nocturnal activity, providing a higher detection rate, but required fine weather. Camera traps captured nocturnal activity, and operated 24/7 throughout harsh weather, but needed careful consideration of empirical assumptions. We discuss the merits and limitations of each method with respect to the estimation of population density in the field

Tracking Parkinson's : Study Design and Baseline Patient Data

Peer reviewedPublisher PD

Interpreting planners' talk about change: An exploratory study.

Talk by planners about major changes (‘reform’) in a particular planning regime is the focus of this article. Change in planning in the United Kingdom has been a recurrent theme in planning practice and research. However, there is little looking at practitioners both in the public and the private sectors in relation to change. Also, theory development has been limited and the interpretive link between institutional change, organisational change and planners’ situated agency could be strengthened. This article aims to add new dimensions to the current debate by looking at planners in both the public and the private sectors in Wales; by adopting a more open-ended approach requiring planners to generate ideas and display a perspective on planning; and by linking theories of institutional and organisational change with the model of actors’ agency developed by Bevir and Rhodes to form an interpretive frame. With reflections stemming from an exploratory case in Wales, the article seeks also to contribute to debates on planning in the United Kingdom and beyond, reaching to new-institutionalist theory and interpretive ontologie

Variation in Recent Onset Parkinson's Disease : Implications for Prodromal Detection

The research was funded by Parkinson’s UK and supported by the National Institute for Health Research (NIHR) DeNDRoN network, the NIHR Newcastle Biomedical Research Unit based at Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University, and the NIHR funded Biomedical Research Centre in Cambridge.Peer reviewedPublisher PD