An exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy.

Objective: To understand patient, caregiver, and clinician perspectives on patient-reported outcome measures, critical functional domains, and disease-modifying therapies in adult spinal muscular atrophy.

Design: An exploratory qualitative single-site study.

Patients: Ten adults with spinal muscular atrophy and two clinicians participated in semi-structured interviews.

Vibrational circular dichroism spectra of proline in water at different pH values.

Recording VCD spectra of aqueous solution poses a particular challenge as water is a strong infrared absorber. Likewise, the computational analysis of VCD spectra by means of DFT-based spectral calculations requires the consideration of explicit solvent molecules, thus posing an even greater challenge. Several studies suggested that by modeling the solvent environment with a few water molecules in a micro-solvation approach would be sufficient to describe experimental spectra.

Understanding the role of aliovalent cation substitution on the li-ion diffusion mechanism in LiPSiSBr argyrodites.

Due to their high ionic conductivity, lithium-ion conducting argyrodites show promise as solid electrolytes for solid-state batteries. Aliovalent substitution is an effective technique to enhance the transport properties of LiPSBr, where aliovalent Si substitution triples ionic conductivity. However, the origin of this experimentally observed increase is not fully understood.

Asparagus breeding: Future research needs for sustainable production.

Productivity in asparagus ( L.) is determined in part by (1) the selection of superior, adaptive genetics, (2) matching the selected genetics to the production environment, and (3) managing the crop production system in ways to maximize harvest potential that are sustainable, profitable, and efficient. Over the last 100 years, a considerable effort by asparagus researchers has gone into breeding superior genetic lines, testing those in numerous locations, and studying how asparagus responds to a multitude of inputs (fertilizers, irrigation, fungicides, herbicides, insecticides).

Stereochemistry Controls Dihydrogen Bonding Strengths in Chiral Amine Boranes Adducts.

The growing interest in exploiting novel concepts of non-covalent interactions in catalysts and supramolecular chemistry made us revisit a special kind of hydrogen bonding: the dihydrogen bond (DHB), formed between a classical hydrogen bond donor and a hydridic hydrogen as acceptor. Herein, we investigate how the strength of the N-H ⋅⋅⋅ H-B interaction and hence the DHB-driven self-aggregation of amine-borane adducts is governed by steric effects by comparing the structures and binding enthalpies of various chiral derivatives. For a diastereomeric pair of amine-boranes prepared from a chiral secondary amine, we show that the stereochemistry at the nitrogen has significant influence on the interaction enthalpy.

Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex.

Background: CD2-associated protein (CD2AP), a slit diaphragm-associated scaffolding protein involved in survival and regulation of the cytoskeleton in podocytes, is considered a "stabilizer" of the slit diaphragm complex that connects the slit diaphragm protein nephrin to the cytoskeleton of the cell. Tyrosine phosphorylation of slit diaphragm molecules can influence their surface expression, but it is unknown whether tyrosine phosphorylation events of CD2AP are also physiologically relevant to slit diaphragm stability.

Methods: We used isoelectric focusing, western blot analysis, and immunofluorescence to investigate phosphorylation of CD2AP, and phospho-CD2AP antibodies and site-directed mutagenesis to define the specific phosphorylated tyrosine residues.

Discriminative value of frailty screening instruments in end-stage renal disease.

Background: Numerous frailty screening instruments are available, but their applicability for identifying frailty in patients with end-stage renal disease (ESRD) is unknown. We aimed to investigate the diagnostic accuracy of three instruments used for frailty screening in an ESRD population.

Methods: The study was conducted in 2013 in a teaching hospital in The Netherlands and included patients receiving haemodialysis, peritoneal dialysis and pre-dialysis care.

High prevalence of frailty in end-stage renal disease.

Purpose: Prognosis of the increasing number of elderly patients with end-stage renal disease (ESRD) is poor with high risk of functional decline and mortality. Frailty seems to be a good predictor for those patients that will not benefit from dialysis. Varying prevalences between populations are probably related to the instrument used.

Integration of genetic, genomic and transcriptomic information identifies putative regulators of adventitious root formation in Populus.

Background: Adventitious roots (AR) develop from tissues other than the primary root, in a process physiologically regulated by phytohormones. Adventitious roots provide structural support and contribute to water and nutrient absorption, and are critical for commercial vegetative propagation of several crops. Here we quantified the number of AR, root architectural traits and root biomass in cuttings from a pseudo-backcross population of Populus deltoides and Populus trichocarpa.

Genetical genomics of Populus leaf shape variation.

Background: Leaf morphology varies extensively among plant species and is under strong genetic control. Mutagenic screens in model systems have identified genes and established molecular mechanisms regulating leaf initiation, development, and shape. However, it is not known whether this diversity across plant species is related to naturally occurring variation at these genes.

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.

Visual cortical surface area varies two- to threefold between human individuals, is highly heritable, and has been correlated with visual acuity and visual perception. However, it is still largely unknown what specific genetic and environmental factors contribute to normal variation in the area of visual cortex. To identify SNPs associated with the proportional surface area of visual cortex, we performed a genome-wide association study followed by replication in two independent cohorts.

Progressive membrane phospholipid changes in first episode schizophrenia with high field magnetic resonance spectroscopy.

Patients with a first episode of schizophrenia generally have increased phospholipid membrane breakdown products within the brain, while findings in chronic patients have been inconsistent. In this study we examine progressive changes in phosphorus membrane metabolites in the same patient group through the early years of schizophrenia in brain regions associated with the disease. Sixteen never-treated and medicated first episode schizophrenic patients were assessed at 10 months and 52 months after diagnosis.

Grey matter and social functioning correlates of glutamatergic metabolite loss in schizophrenia.

Background: Thalamic glutamine loss and grey matter reduction suggest neurodegeneration in first-episode schizophrenia, but the duration is unknown.

Aims: To observe glutamine and glutamate levels, grey matter volumes and social functioning in patients with schizophrenia followed to 80 months after diagnosis.

Method: Grey matter volumes and proton magnetic resonance spectroscopy metabolites in left anterior cingulate and left thalamus were measured in 17 patients with schizophrenia before medication and 10 and 80 months after diagnosis.

Evidence for a dose-dependent effect of pulsed magnetic fields on pain processing.

Functional magnetic resonance imaging (fMRI) was used to investigate the dose-response relationship (sham, 100, 200, 1000 microT) between a pulsed extremely low frequency magnetic field (ELFMF) and acute thermal pain on the dominant right hand. Forty-seven participants were recruited, and pulsed ELFMF was applied through the MRI gradient system using a novel technique. Regions of interest (ROIs) matching those of previous studies were examined for a potential dose response.

Diversification in the genetic architecture of gene expression and transcriptional networks in organ differentiation of Populus.

A fundamental goal of systems biology is to identify genetic elements that contribute to complex phenotypes and to understand how they interact in networks predictive of system response to genetic variation. Few studies in plants have developed such networks, and none have examined their conservation among functionally specialized organs. Here we used genetical genomics in an interspecific hybrid population of the model hardwood plant Populus to uncover transcriptional networks in xylem, leaves, and roots.

Low-frequency pulsed electromagnetic field exposure can alter neuroprocessing in humans.

Extremely low-frequency magnetic fields (from DC to 300 Hz) have been shown to affect pain sensitivity in snails, rodents and humans. Here, a functional magnetic resonance imaging study demonstrates how the neuromodulation effect of these magnetic fields influences the processing of acute thermal pain in normal volunteers. Significant interactions were found between pre- and post-exposure activation between the sham and exposed groups for the ipsilateral (right) insula, anterior cingulate and bilateral hippocampus/caudate areas.

Mapping brain abnormalities in boys with autism.

Children with autism spectrum disorder (ASD) exhibit characteristic cognitive and behavioral differences, but no systematic pattern of neuroanatomical differences has been consistently found. Recent neurodevelopmental models posit an abnormal early surge in subcortical white matter growth in at least some autistic children, perhaps normalizing by adulthood, but other studies report subcortical white matter deficits. To investigate the profile of these alterations in 3D, we mapped brain volumetric differences using a relatively new method, tensor-based morphometry.

Longitudinal 4.0 Tesla (31)P magnetic resonance spectroscopy changes in the anterior cingulate and left thalamus in first episode schizophrenia.

Progressive volumetric losses in schizophrenia may be preceded by abnormal cell membrane metabolism. Longitudinal changes in membrane metabolites were quantified with (31)P MRS in the anterior cingulate and left thalamus of 13 first episode schizophrenic patients and 13 healthy volunteers at baseline and 30 months. Glycerophosphocholine was higher in patients at baseline in the anterior cingulate and glycerophosphoethanolamine was lower in the left thalamus at 30 months compared with patients at baseline and volunteers at 30 months.

Green Foxtail (Setaria viridis), A Naturally Infected Grass Host of Iris yellow spot virus in Utah.

Iris yellow spot virus (IYSV; family Bunyaviridae, genus Tospovirus) is a serious virus pathogen in onion bulb and seed crops in the United States and several parts of the world (1). The virus is exclusively transmitted by onion thrips (Thrips tabaci). Besides onion and other susceptible crops such as garlic, leek, chives, and several ornamentals, weeds could be serving as potential reservoir sources of virus inoculum.

Natural Infection of Iris yellow spot virus in Twoscale Saltbush (Atriplex micrantha) Growing in Utah.

Iris yellow spot virus (IYSV; family Bunyaviridae, genus Tospovirus) continues to be an economically important pathogen affecting onion bulb and seed production in several parts of the world and the United States (1). Several weeds were reported naturally infected with IYSV (1,2,4). Leaves of Atriplex micrantha Ledeb.

Quantitative genetic analysis of biomass and wood chemistry of Populus under different nitrogen levels.

The genetic control of carbon allocation and partitioning in woody perennial plants is poorly understood despite its importance for carbon sequestration, biofuels and other wood-based industries. It is also unclear how environmental cues, such as nitrogen availability, impact the genes that regulate growth, biomass allocation and wood composition in trees. We phenotyped 396 clonally replicated genotypes of an interspecific pseudo-backcross pedigree of Populus for wood composition and biomass traits in above- and below-ground organs.

A microarray-based genotyping and genetic mapping approach for highly heterozygous outcrossing species enables localization of a large fraction of the unassembled Populus trichocarpa genome sequence.

Microarrays have demonstrated significant power for genome-wide analyses of gene expression, and recently have also revolutionized the genetic analysis of segregating populations by genotyping thousands of loci in a single assay. Although microarray-based genotyping approaches have been successfully applied in yeast and several inbred plant species, their power has not been proven in an outcrossing species with extensive genetic diversity. Here we have developed methods for high-throughput microarray-based genotyping in such species using a pseudo-backcross progeny of 154 individuals of Populus trichocarpa and P.

High-throughput gene and SNP discovery in Eucalyptus grandis, an uncharacterized genome.

Background: Benefits from high-throughput sequencing using 454 pyrosequencing technology may be most apparent for species with high societal or economic value but few genomic resources. Rapid means of gene sequence and SNP discovery using this novel sequencing technology provide a set of baseline tools for genome-level research. However, it is questionable how effective the sequencing of large numbers of short reads for species with essentially no prior gene sequence information will support contig assemblies and sequence annotation.

Three-dimensional mapping of the lateral ventricles in autism.

In this study, a computational mapping technique was used to examine the three-dimensional profile of the lateral ventricles in autism. T1-weighted three-dimensional magnetic resonance images of the brain were acquired from 20 males with autism (age: 10.1+/-3.