RARS2 mutations in a sibship with infantile spasms

Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum. We report two male siblings who presented with early infantile clonic seizures, and then developed infantile spasms associated with prominent isolated cerebellar hypoplasia/atrophy on magnetic resonance imaging (MRI). Using whole exome sequencing techniques, both were found to be compound heterozygotes for one previously reported and one novel mutation in the gene encoding mitochondrial arginyl-tRNA synthetase 2 (RARS2). Mutations in this gene have been classically described in pontocerebellar hypoplasia type six (PCH6), a phenotype characterized by early (often intractable) seizures, profound developmental delay, and progressive pontocerebellar atrophy. The electroclinical spectrum of PCH6 is broad and includes a number of seizure types: myoclonic, generalized tonic-clonic, and focal clonic seizures. Our report expands the characterization of the PCH6 disease spectrum and presents infantile spasms as an associated electroclinical phenotype

Proton Magnetic Resonance Spectroscopy Lactate/N-Acetylaspartate within 2 weeks of birth accurately predicts 2-year motor, cognitive and language outcomes in Neonatal Encephalopathy after Therapeutic Hypothermia

OBJECTIVE: Brain proton (1H) magnetic resonance spectroscopy (MRS) lactate/N-Acetylaspartate (Lac/NAA) peak area ratio is used for prognostication in Neonatal Encephalopathy (NE). At 3-Tesla in NE babies, the objectives were to assess: (i) sensitivity and specificity of basal ganglia and thalamus (BGT) 1H MRS Lac/NAA for prediction of Bayley III outcomes at 2-years using optimized metabolite fitting (Tarquin) with threonine and total NAA; (ii) prediction of motor outcome with diffusion-weighted MRI; iii) BGT Lac/NAA correlation with the NICHD MRI score. MATERIALS AND METHODS: 55 (16 inborn, 39 outborn) NE infants at 39w+5d (35w+5d-42w+0d) admitted between February 2012 and August 2014 to UCH for therapeutic hypothermia underwent MRI and 1H MRS at 3T on day 2-14 (median day 5). MRIs were scored. Bayley III was assessed at 24 (22-26) months. RESULTS: Sixteen babies died (1 inborn, 15 outborn); 20, 19 and 21 babies had poor motor, cognitive and language outcomes. Using a threshold of 0.39, sensitivity and specificity of BGT Lac/NAA for 2-year motor outcome was 100% and 97%, cognition 90% and 97% and language 81% and 97% respectively. Sensitivity and specificity for motor outcome of mean diffusivity (MD; threshold 0.001 mm2 /s) up to day 9 was 72% and 39% and fractional anisotropy (FA; threshold 0.198) was 100%, and 94% respectively. Lac/NAA correlated with BGT injury on NICHD scores (2A, 2B, 3). CONCLUSIONS: BGT Lac/NAA on 1H MRS at 3T within 14 days accurately predicts 2-year motor, cognitive and language outcome and may be a marker directing decisions for therapies after cooling

Use of green solvents as pre-treatment of dissolving pulp to decrease CS2 consumption from viscose production

Choline chloride-based deep eutectic solvents are widely used in biomass processing. In this work, four different green solvent mixtures were used as pre-treatment of acid sulphite dissolving pulp with the hypothesis of increasing the possibilities to produce viscose fibres and decreasing the use of the harmful and toxic carbon disulphide in the process. The experiments were performed at two different pulp to solvent mass ratios. Pulp quality parameters were also measured to determine the suitability of the pretreatment: a-cellulose, viscosity, lignin and pentosan content. In addition, X-ray diffraction analysis of pulps at the best solid to liquid ratio was performed to obtain the influence of the crystallinity index. Best results were obtained with the use of lactic acid, with reactivity values close to 94%, giving a reduction of CS2 usage of 15.83%. Furthermore, a linear relationship between the crystallinity index calculated by the XRD and reactivity with a regression factor of 0.87 was found

Post mortem magnetic resonance imaging in the fetus, infant and child: A comparative study with conventional autopsy (MaRIAS Protocol)

<p>Abstract</p> <p>Background</p> <p>Minimally invasive autopsy by post mortem magnetic resonance (MR) imaging has been suggested as an alternative for conventional autopsy in view of the declining consented autopsy rates. However, large prospective studies rigorously evaluating the accuracy of such an approach are lacking. We intend to compare the accuracy of a minimally invasive autopsy approach using post mortem MR imaging with that of conventional autopsy in fetuses, newborns and children for detection of the major pathological abnormalities and/or determination of the cause of death.</p> <p>Methods/Design</p> <p>We recruited 400 consecutive fetuses, newborns and children referred for conventional autopsy to one of the two participating hospitals over a three-year period. We acquired whole body post mortem MR imaging using a 1.5 T MR scanner (Avanto, Siemens Medical Solutions, Enlargen, Germany) prior to autopsy. The total scan time varied between 90 to 120 minutes. Each MR image was reported by a team of four specialist radiologists (paediatric neuroradiology, paediatric cardiology, paediatric chest & abdominal imaging and musculoskeletal imaging), blinded to the autopsy data. Conventional autopsy was performed according to the guidelines set down by the Royal College of Pathologists (UK) by experienced paediatric or perinatal pathologists, blinded to the MR data. The MR and autopsy data were recorded using predefined categorical variables by an independent person.</p> <p>Discussion</p> <p>Using conventional post mortem as the gold standard comparator, the MR images will be assessed for accuracy of the anatomical morphology, associated lesions, clinical usefulness of information and determination of the cause of death. The sensitivities, specificities and predictive values of post mortem MR alone and MR imaging along with other minimally invasive post mortem investigations will be presented for the final diagnosis, broad diagnostic categories and for specific diagnosis of each system.</p> <p>Clinical Trial Registration</p> <p><a href="http://www.clinicaltrials.gov/ct2/show/NCT01417962">NCT01417962</a></p> <p><b>NIHR Portfolio Number: </b>6794</p

Open data from the third observing run of LIGO, Virgo, KAGRA and GEO

The global network of gravitational-wave observatories now includes five detectors, namely LIGO Hanford, LIGO Livingston, Virgo, KAGRA, and GEO 600. These detectors collected data during their third observing run, O3, composed of three phases: O3a starting in April of 2019 and lasting six months, O3b starting in November of 2019 and lasting five months, and O3GK starting in April of 2020 and lasting 2 weeks. In this paper we describe these data and various other science products that can be freely accessed through the Gravitational Wave Open Science Center at https://gwosc.org. The main dataset, consisting of the gravitational-wave strain time series that contains the astrophysical signals, is released together with supporting data useful for their analysis and documentation, tutorials, as well as analysis software packages.Comment: 27 pages, 3 figure

First joint observation by the underground gravitational-wave detector KAGRA with GEO 600

We report the results of the first joint observation of the KAGRA detector with GEO 600. KAGRA is a cryogenic and underground gravitational-wave detector consisting of a laser interferometer with 3 km arms, located in Kamioka, Gifu, Japan. GEO 600 is a British-German laser interferometer with 600 m arms, located near Hannover, Germany. GEO 600 and KAGRA performed a joint observing run from April 7 to 20, 2020. We present the results of the joint analysis of the GEO-KAGRA data for transient gravitational-wave signals, including the coalescence of neutron-star binaries and generic unmodeled transients. We also perform dedicated searches for binary coalescence signals and generic transients associated with gamma-ray burst events observed during the joint run. No gravitational-wave events were identified. We evaluate the minimum detectable amplitude for various types of transient signals and the spacetime volume for which the network is sensitive to binary neutron-star coalescences. We also place lower limits on the distances to the gamma-ray bursts analyzed based on the non-detection of an associated gravitational-wave signal for several signal models, including binary coalescences. These analyses demonstrate the feasibility and utility of KAGRA as a member of the global gravitational-wave detector network