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

Search for continuous gravitational wave emission from the Milky Way center in O3 LIGO--Virgo data

We present a directed search for continuous gravitational wave (CW) signals emitted by spinning neutron stars located in the inner parsecs of the Galactic Center (GC). Compelling evidence for the presence of a numerous population of neutron stars has been reported in the literature, turning this region into a very interesting place to look for CWs. In this search, data from the full O3 LIGO--Virgo run in the detector frequency band $[10,2000]\rm~Hz$ have been used. No significant detection was found and 95$\%$ confidence level upper limits on the signal strain amplitude were computed, over the full search band, with the deepest limit of about $7.6\times 10^{-26}$ at $\simeq 142\rm~Hz$. These results are significantly more constraining than those reported in previous searches. We use these limits to put constraints on the fiducial neutron star ellipticity and r-mode amplitude. These limits can be also translated into constraints in the black hole mass -- boson mass plane for a hypothetical population of boson clouds around spinning black holes located in the GC.Comment: 25 pages, 5 figure

All-sky search for continuous gravitational waves from isolated neutron stars using Advanced LIGO and Advanced Virgo O3 data

We present results of an all-sky search for continuous gravitational waves which can be produced by spinning neutron stars with an asymmetry around their rotation axis, using data from the third observing run of the Advanced LIGO and Advanced Virgo detectors. Four different analysis methods are used to search in a gravitational-wave frequency band from 10 to 2048 Hz and a first frequency derivative from $-10^{-8}$ to $10^{-9}$ Hz/s. No statistically-significant periodic gravitational-wave signal is observed by any of the four searches. As a result, upper limits on the gravitational-wave strain amplitude $h_0$ are calculated. The best upper limits are obtained in the frequency range of 100 to 200 Hz and they are ${\sim}1.1\times10^{-25}$ at 95\% confidence-level. The minimum upper limit of $1.10\times10^{-25}$ is achieved at a frequency 111.5 Hz. We also place constraints on the rates and abundances of nearby planetary- and asteroid-mass primordial black holes that could give rise to continuous gravitational-wave signals

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

All-sky search for continuous gravitational waves from isolated neutron stars using Advanced LIGO and Advanced Virgo O3 data

We present results of an all-sky search for continuous gravitational waves which can be produced by spinning neutron stars with an asymmetry around their rotation axis, using data from the third observing run of the Advanced LIGO and Advanced Virgo detectors. Four different analysis methods are used to search in a gravitational-wave frequency band from 10 to 2048 Hz and a first frequency derivative from $-10^{-8}$ to $10^{-9}$ Hz/s. No statistically-significant periodic gravitational-wave signal is observed by any of the four searches. As a result, upper limits on the gravitational-wave strain amplitude $h_0$ are calculated. The best upper limits are obtained in the frequency range of 100 to 200 Hz and they are ${\sim}1.1\times10^{-25}$ at 95\% confidence-level. The minimum upper limit of $1.10\times10^{-25}$ is achieved at a frequency 111.5 Hz. We also place constraints on the rates and abundances of nearby planetary- and asteroid-mass primordial black holes that could give rise to continuous gravitational-wave signals.Comment: 23 main text pages, 17 figure