Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Background: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants.

Methods: We use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations.

Peripheral nerve diffusion tensor imaging as a measure of disease progression in ALS.

Clinical trial design in amyotrophic lateral sclerosis (ALS) remains hampered by a lack of reliable and sensitive biomarkers of disease progression. The present study evaluated peripheral nerve diffusion tensor imaging (DTI) as a surrogate marker of axonal degeneration in ALS. Longitudinal studies were undertaken in 21 ALS patients studied at 0 and 3 months, and 19 patients at 0, 3 and 6 months, with results compared to 13 age-matched controls.

Complex, multi-scale small intestinal topography replicated in cellular growth substrates fabricated via chemical vapor deposition of Parylene C.

Native small intestine possesses distinct multi-scale structures (e.g., crypts, villi) not included in traditional 2D intestinal culture models for drug delivery and regenerative medicine.

Isolation of a Moderately Stable but Sensitive Zwitterionic Diazonium Tetrazolyl-1,2,3-triazolate.

An unexpected formation of a diazonium compound was observed by nitration of an amino substituted triazolyl tetrazole with mixed acid. The crystal structure determination revealed a zwitterionic diazonium tetrazolyl-1,2,3-triazolate, whose constitution was supported by NMR and vibrational spectroscopic analysis. The thermal stability and sensitivity toward impact and friction were determined.

Combining the Advantages of Tetrazoles and 1,2,3-Triazoles: 4,5-Bis(tetrazol-5-yl)-1,2,3-triazole, 4,5-Bis(1-hydroxytetrazol-5-yl)-1,2,3-triazole, and their Energetic Derivatives.

In the development of new energetic materials, the main challenge is the combination of high energy content with chemical and mechanical stability, two properties that are often contradictory. In this study, the syntheses and comprehensive characterizations of 4,5-bis(tetrazole-5-yl)-1,2,3-triazole and the novel 4,5-bis(1-hydroxytetrazole-5-yl)-1,2,3-triazole, as well as their energetic properties, are presented, combining the advantages of the more energetic tetrazole and the more stable 1,2,3-triazole rings. Nitrogen-rich salts of both compounds were synthesized to investigate their detonation performances and combustion behavior calculated by computer codes for potential application in erosion-reduced gun propellant mixtures due to their high nitrogen content.