A New JECFA Method for GC-MS Determination of Propylene Chlorohydrine Residues in Hydroxypropylated Starches.

Background: Propylene chlorohydrins (PCHs) are formed as byproducts in the reaction between starch and propylene oxide (PO). For hydroxypropylated (HP) starch applications in food, Joint FAO/WHO Expert Committee on Food additives (JECFA) set the maximum allowed total propylene chlorohydrin (PHC-t) residues level at 1 mg/kg.

Objective: To develop an improved analytical method for the determination of the PCH-t content in starches in the low mg/kg range to replace the outdated JECFA method.

Intragenic and structural variation in the locus and clinical variability in spinal muscular atrophy.

Clinical severity and treatment response vary significantly between patients with spinal muscular atrophy. The approval of therapies and the emergence of neonatal screening programmes urgently require a more detailed understanding of the genetic variants that underlie this clinical heterogeneity. We systematically investigated genetic variation other than copy number in the locus.

The role of rare compound heterozygous events in autism spectrum disorder.

The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, we sequenced 550 genes in 149 individuals with ASD and their deletion-transmitting parents. This approach allowed us to identify additional sequence variants occurring in the remaining allele of the deletion.

Analysis of , , and as potential disease severity modifiers in spinal muscular atrophy.

Objective: To investigate mutations in genes that are potential modifiers of spinal muscular atrophy (SMA) severity.

Methods: We performed a hypothesis-based search into the presence of variants in fused in sarcoma () transactive response DNA-binding protein 43 (), plastin 3 (), and profilin 2 () in a cohort of 153 patients with SMA types 1-4, including 19 families. Variants were detected with targeted next-generation sequencing and confirmed with Sanger sequencing.

Multivariate genome-wide analysis of stress-related quantitative phenotypes.

Exposure to traumatic stress increases the odds of developing a broad range of psychiatric conditions. Genetic studies targeting multiple stress-related quantitative phenotypes may shed light on mechanisms underlying vulnerability to psychopathology in the aftermath of stressful events. We applied a multivariate genome-wide association study (GWAS) to a unique military cohort (N = 583) in which we measured biochemical and behavioral phenotypes.