Fast High-Resolution Metabolite Mapping in the rat Brain Using H-FID-MRSI at 14.1 T.

Magnetic resonance spectroscopic imaging (MRSI) enables the simultaneous noninvasive acquisition of MR spectra from multiple spatial locations inside the brain. Although H-MRSI is increasingly used in the human brain, it is not yet widely applied in the preclinical setting, mostly because of difficulties specifically related to very small nominal voxel size in the rat brain and low concentration of brain metabolites, resulting in low signal-to-noise ratio (SNR). In this context, we implemented a free induction decay H-MRSI sequence (H-FID-MRSI) in the rat brain at 14.

Noise-reduction techniques for H-FID-MRSI at 14.1 T: Monte Carlo validation and in vivo application.

Proton magnetic resonance spectroscopic imaging (H-MRSI) is a powerful tool that enables the multidimensional non-invasive mapping of the neurochemical profile at high resolution over the entire brain. The constant demand for higher spatial resolution in H-MRSI has led to increased interest in post-processing-based denoising methods aimed at reducing noise variance. The aim of the present study was to implement two noise-reduction techniques, Marchenko-Pastur principal component analysis (MP-PCA) based denoising and low-rank total generalized variation (LR-TGV) reconstruction, and to test their potential with and impact on preclinical 14.

Diffusion of brain metabolites highlights altered brain microstructure in type C hepatic encephalopathy: a 9.4 T preliminary study.

Introduction: Type C hepatic encephalopathy (HE) is a decompensating event of chronic liver disease leading to severe motor and cognitive impairment. The progression of type C HE is associated with changes in brain metabolite concentrations measured by H magnetic resonance spectroscopy (MRS), most noticeably a strong increase in glutamine to detoxify brain ammonia. In addition, alterations of brain cellular architecture have been measured by histology in a rat model of type C HE.

Redox-active ligands - a viable route to reactive main group metal compounds.

Anionic redox-active ligands such as -amidophenolates, catecholates, dithiolenes, 1,2-benzendithiolates, 2-amidobenzenethiolates, reduced α-diimines, ferrocenyl and porphyrinates are capable of reversible oxidation and thus have the ability to act as sources of electrons for metal centres. These and other non-innocent ligands have been employed in coordination complexes of base transition metals to influence their redox chemistry and afford compounds with useful catalytic, optical, magnetic and conducting properties. Despite the focus in contemporary main group chemistry on designing reactive compounds with potential catalytic activity, comparatively few studies exploring the chemistry of main group metal complexes incorporating redox-active ligands have been reported.

Development and application of Single Primer Enrichment Technology (SPET) SNP assay for population genomics analysis and candidate gene discovery in lettuce.

Single primer enrichment technology (SPET) is a novel high-throughput genotyping method based on short-read sequencing of specific genomic regions harboring polymorphisms. SPET provides an efficient and reproducible method for genotyping target loci, overcoming the limits associated with other reduced representation library sequencing methods that are based on a random sampling of genomic loci. The possibility to sequence regions surrounding a target SNP allows the discovery of thousands of closely linked, novel SNPs.

Polymer-chain configurations in active and passive baths.

The configurations taken by polymers embedded in out-of-equilibrium baths may have broad implications in a variety of biological systems. As such, they have attracted considerable interest, particularly in simulation studies. Here we analyze the distribution of configurations taken by a passive flexible chain in a bath of hard, self-propelled, vibrated disks and systematically compare it to that of the same flexible chain in a bath of hard, thermal-like, vibrated disks.

Identification of a functional FADS1 3'UTR variant associated with erythrocyte n-6 polyunsaturated fatty acids levels.

Background: Blood polyunsaturated fatty acid (PUFA) levels are determined by diet and by endogenous synthesis via Δ5- and Δ6-desaturases (encoded by the FADS1 and FADS2 genes, respectively). Genome-wide association studies have reported associations between FADS1-FADS2 polymorphisms and the plasma concentrations of PUFAs, HDL- and LDL-cholesterol, and triglycerides. However, much remains unknown regarding the molecular mechanisms explaining how variants affect the function of FADS1-FADS2 genes.

Spontaneously Flowing Crystal of Self-Propelled Particles.

We experimentally and numerically study the structure and dynamics of a monodisperse packing of spontaneously aligning self-propelled hard disks. The packings are such that their equilibrium counterparts form perfectly ordered hexagonal structures. Experimentally, we first form a perfect crystal in a hexagonal arena which respects the same crystalline symmetry.

Active versus Passive Hard Disks against a Membrane: Mechanical Pressure and Instability.

We experimentally study the mechanical pressure exerted by a set of respectively passive isotropic and self-propelled polar disks onto two different flexible unidimensional membranes. In the case of the isotropic disks, the mechanical pressure, inferred from the shape of the membrane, is identical for both membranes and follows the equilibrium equation of state for hard disks. On the contrary, for the self-propelled disks, the mechanical pressure strongly depends on the membrane in use and thus is not a state variable.

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Background: Despite ACADS (acyl-CoA dehydrogenase, short-chain) gene susceptibility variants (c.511C>T and c.625G>A) are considered to be non-pathogenic, encoded proteins are known to exhibit altered kinetics.

Synthesis and crystal structure of bis-(μ-2-methyl-benzene-thiol-ato-κ:)bis-[meth-yl(2-methyl-benzene-thiol-ato-κ)indium(III)].

The dinuclear title compound, [In(CH)(CHS)] or [Me(2-MeCHS)In-μ-(2-MeCHS)InMe(2-MeCHS)], was prepared from the 1:2 reaction of MeIn and 2-MeCHSH in toluene. Its crystal structure exhibits a four-membered InS ring core bridging (2-MeCHS) groups. The dimeric units are further associated into a one-dimensional polymeric structure extending parallel to the axis inter-molecular In⋯S contacts.

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

Background: 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of leucine metabolism and ketogenesis. Despite recurrent hypoglycemia and metabolic decompensations, most patients have a good clinical and neurological outcome contrasting with abnormal brain magnetic resonance imaging (MRI) signals and consistent abnormal brain proton magnetic resonance spectroscopy (H-MRS) metabolite peaks. Identifying these metabolites could provide surrogate markers of the disease and improve understanding of MRI-clinical discrepancy and follow-up of affected patients.

Crystallization of Self-Propelled Hard Discs.

We experimentally study the crystallization of a monolayer of vibrated discs with a built-in polar asymmetry, a model system of active liquids, and contrast it with that of vibrated isotropic discs. Increasing the packing fraction ϕ, the quasicontinuous crystallization reported for isotropic discs is replaced by a transition, or a crossover, towards a "self-melting" crystal. Starting from the liquid phase and increasing the packing fraction, clusters of dense hexagonal-ordered packed discs spontaneously form, melt, split, and merge, leading to a highly intermittent and heterogeneous dynamics.

Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported an improvement of peroxisomal functions with l-arginine supplementation in fibroblasts with specific mutations of PEX1, PEX6, and PEX12. We report the first treatment by l-arginine in a patient homozygous for the specific PEX12 mutation shown to be l-arginine responsive in fibroblasts.

Crystal structure of dimethyl-1κ(2) C-bis(μ-4-methylphenolato-1:2κ(2) O:O)(N,N,N',N'-tetramethylethylenediamine-2κ(2) N,N')indium(III)lithium(I).

The mixed bimetallic title compound, [InLi(CH3)2(C7H7O)2(C6H16N2)] or [(tmeda)Li-μ-(4-MeC6H4O)2InMe2] (tmeda is N,N,N',N'-tetra-methyl-ethylenedi-amine), exhibits a four-membered LiO2In ring core via bridging 4-methyl-phenolate groups. The Li and In atoms are in distorted tetra-hedral N2O2 and C2O2 bonding environments, respectively. The Li atom is further chelated by a tmeda group, yielding a spiro-cyclic structure.

Reservations to Participate in Biospecimen Research among Pacific Islanders.

Background And Significance: Despite high rates of chronic diseases like cancer, diabetes and cardiovascular disease, Pacific Islanders (PIs) are underrepresented in clinical and genetic studies designed to identify the physiological causes of poor health outcomes. There are limited genetic data and biospecimen samples from PIs under study. This paper described why PIs have reservations about donating their biospecimen samples for research.

[Mass spectrometry and inherited metabolic diseases diagnosis].

Tandem mass spectrometry is used for the diagnosis and following of metabolic disorders for acylcarnitine profiling and with liquide chromatography to explore creatin metabolism and amino and bile acids disorders. The analysis of organic acids by GC-MS is still the reference method for the diagnosis of inherited disorders of organiques acides and sterols. These techniques are also used to perform "in vitro" functional tests.

catena-Poly[bis-[dimeth-yl(pyridine-κN)indium(III)]-μ4-benzene-1,3-diolato-bis-[di-methyl-indium(III)]-μ4-benzene-1,3-diolato].

The title compound, [In2(CH3)4(C6H4O2)(C5H5N)] or [{(CH3)2In}(1,3-O2C6H4){In(CH3)2(py)}] n , (py = pyridine) contains two crystallographically unique In(III) ions which are in distorted tetra-hedral C2O2 and distorted trigonal-bipyramidal C2O2N coordination environments. The In(III) coordination centers are bridged head-to-head via In-O bonds, yielding four-membered In2O2 rings and zigzag polymeric chains along [001].

Use of a community-based participatory research approach to assess knowledge, attitudes, and beliefs on biospecimen research among Pacific Islanders.

Objectives. The purpose of this article is to describe a community-based participatory research pilot project conducted to investigate the knowledge, attitudes, and beliefs that Pacific Islanders (PIs) hold toward biospecimen collection, use, and banking, all of which will help drive higher PI participation rates in both medical and behavioral research studies. Method.

Creatine and guanidinoacetate reference values in a French population.

Creatine and guanidinoacetate are biomarkers of creatine metabolism. Their assays in body fluids may be used for detecting patients with primary creatine deficiency disorders (PCDD), a class of inherited diseases. Their laboratory values in blood and urine may vary with age, requiring that reference normal values are given within the age range.

[Muscle biopsy in children: Usefulness in 2012].

Muscle biopsy is a mainstay diagnostic tool for investigating neuromuscular disorders in children. We report the yield of pediatric muscle biopsy in a population of 415 children by a retrospective study of 419 biopsies performed between 1/01/2000 and 31/12/2009 in a neuropediatric department, including mitochondrial respiratory chain analysis for 87 children. Two hundred and fifty-five biopsies were from boys (61%) 164 from girls (39%).

Structural variation in ethylenediamine and -diphosphine adducts of (2,6-Me2C6H3S)2Pb: a single crystal X-ray diffraction and 207Pb solid-state NMR spectroscopy study.

Coordination complexes of (2,6-Me2C6H3S)2Pb (1) with flexible bidentate ligands have been prepared to explore new bonding environments for Pb(II) thiolates. The reaction of 1 with a series of ethylenediamine and ethylenediphosphine ligands resulted in isolation of the adducts [(2,6-Me2C6H3S)2Pb]2(tmeda) (9), [(2,6-Me2C6H3S)2Pb]3(dmpe) (10) and [(2,6-Me2C6H3S)2Pb]2(dppe) (11) [tmeda = N,N,N',N'-tetramethylethylenediamine; dmpe = bis(dimethylphosphino)ethane; dppe = bis(diphenylphosphino)ethane]. The X-ray crystal structure of 9 shows a dinuclear species in which tmeda is chelating a ψ-trigonal bipyramidal S2N2 Pb centre via axial and equatorial sites.