Neuropsychological profile of patients with normal pressure hydrocephalus and Alzheimer's disease

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Evidence for mass accretion driven by spiral shocks onto the white dwarf in SDSS J123813.73–033933.0

We present high-time-resolution photometry and phase-resolved spectroscopy of the short-period (⁠Porb=80.52min⁠) cataclysmic variable SDSS J123813.73–033933.0, observed with the Hubble Space Telescope (HST), the Kepler/K2 mission, and the Very Large Telescope (VLT). We also report observations of the first detected superoutburst. SDSS J1238–0339 shows two types of variability: quasi-regular brightenings recurring every ≃8.5  h during which the system increases in brightness by ≃0.5mag, and a double-hump quasi-sinusoidal modulation at the orbital period. The detailed K2 light curve reveals that the amplitude of the double-humps increases during the brightenings and that their phase undergoes a ≃90° phase shift with respect to the quiescent intervals. The HST  data unambiguously demonstrate that these phenomena both arise from the heating and cooling of two relatively large regions on the white dwarf. We suggest that the double-hump modulation is related to spiral shocks in the accretion disc resulting in an enhanced accretion rate heating two localized regions on the white dwarf, with the structure of the shocks fixed in the binary frame explaining the period of the double humps. The physical origin of the 8.5  h brightenings is less clear. However, the correlation between the observed variations of the amplitude and phase of the double-humps with the occurrence of the brightenings is supportive of an origin in thermal instabilities in the accretion disc

Search for Lorentz and CPT violation using sidereal time dependence of neutrino flavor transitions over a short baseline

A class of extensions of the Standard Model allows Lorentz and CPT violations, which can be identified by the observation of sidereal modulations in the neutrino interaction rate. A search for such modulations was performed using the T2K on-axis near detector. Two complementary methods were used in this study, both of which resulted in no evidence of a signal. Limits on associated Lorentz and CPT-violating terms from the Standard Model extension have been derived by taking into account their correlations in this model for the first time. These results imply such symmetry violations are suppressed by a factor of more than 10 20 at the GeV scale

Measurement of coherent π+π^{+} production in low energy neutrino-Carbon scattering

We report the first measurement of the flux-averaged cross section for charged current coherent $\pi^{+}$ production on carbon for neutrino energies less than 1.5 GeV to a restricted final state phase space region in the T2K near detector, ND280. Comparisons are made with predictions from the Rein-Sehgal coherent production model and the model by Alvarez-Ruso {\it et al.}, the latter representing the first implementation of an instance of the new class of microscopic coherent models in a neutrino interaction Monte Carlo event generator. This results contradicts the null results reported by K2K and SciBooNE in a similar neutrino energy region

Whole-genome sequencing reveals host factors underlying critical COVID-19

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

Unusual sciatica: Traumatic rupture of the ligamentum flavum

We describe a case of acute traumatic rupture of the ligamentum flavum. A condition occurring where there had been histological evidence of previous ligamentous damage. The symptoms were extreme and the surgical treatment highly effective.<br/

Neuropsychological profile of young adults with spina bifida with or without hydrocephalus

Objectives: To determine the relative impact of hydrocephalus and spinal dysraphism in young adults on intellectual and cognitive functioning. Sub-groups of patients with congenital hydrocephalus and/or spina bifida were assessed between 1995 and 2003. The entry criteria were that individuals should have (i) intact global function, (ii) average verbal intelligence (or above), and (iii) should not have clinical depression. There were three sub-groups: patients with hydrocephalus and spina bifida, patients with hydrocephalus without spina bifida, and patients with spina bifida without hydrocephalus. Methods: Patients were neuropsychologically assessed as part of their normal clinical assessment during their annual medical review. Each individual completed a screening battery assessing global functioning, verbal intelligence, and mood. In addition they completed additional tests including measures of emotional intelligence, memory, attention, and executive function. Results were analysed to compare the performance of the patient sub-groups and to compare them to a healthy control group. Results: Patients with hydrocephalus (with or without spina bifida) were significantly impaired on the vast majority of all test scores as compared to patients with spina bifida and healthy controls. They were particularly poor on measures assessing executive function. By contrast for patients with spina bifida with no associated hydrocephalus, the significant majority of all test scores fell within the average range or above. Conclusions: The neuropsychological profile of patients with hydrocephalus is one of relative impairment and this is so whether or not spina bifida is present. In spina bifida alone, in the absence of hydrocephalus, cognitive function is relatively spared