COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

This phenotype-genotype study aimed to investigate the extent of audioprofile variability related to cochlin major domains and to identify potential ethnic-specific differences associated with COCH-related hearing loss. Eight Korean families (26 cases) were diagnosed with COCH-related hearing loss by exome sequencing. Audiometric test results were combined with those from nine published East Asian families (20 cases) and compared with those from 38 European-descent families (277 cases). Audioprofiles were created by grouping audiometric test results into age ranges by age at testing and then averaging hearing loss thresholds by frequency within age ranges. The functional impact of the identified variants was assessed in vitro by examining the intracellular trafficking, secretion, and cleavage of cochlin. In both East Asian and European-descent families segregating COCH-related hearing loss, deafness-associated variants in non-LCCL domains of cochlin were associated with hearing loss that was more severe earlier in life than hearing loss caused by variants in the LCCL domain. Consistent with this phenotypic difference, functional studies demonstrated distinct pathogenic mechanisms for COCH variants in a domain-dependent manner; specifically, a cytotoxic effect was observed for the p.Phe230Leu variant, which is located in the vWFA1 domain. No ethnic-specific differences in hearing loss progression were observed, except for those attributable to an overrepresentation of presymptomatic cases in the European-descent cohort.

Demonstrating Aqueous-Phase Low-Molecular-Weight-Gel Wicking of Oil for the Remediation of Oil Spilled into Surface Water.

Oils spilled into surface water require effective and timely treatment. In this paper, we report on a low-molecular-weight gelator that can form gels in organic and aqueous phases. The aqueous gel was observed to absorb oils, which is proposed as a new class of materials for remediating oil spilled into surface water. The gels and the low-molecular-weight gelator have both fundamental and applied significance. Fundamentally, identifying the mechanisms that govern the formation of these gels and their resultant mechanical properties is of interest. Subsequently, these fundamental insights aid in the optimization of these gels for addressing spilled oil. First, we briefly compare the organic and aqueous gels qualitatively before focusing on the aqueous gel. Second, we demonstrate the ability of the aqueous gel to wick oils through experiments in a Hele-Shaw cell and compare our results to the Washburn equation for porous media. The Washburn equation is not entirely adequate in describing our results due to the change in volume of the porous media during the wicking process. Finally, we investigate mechanisms proposed to govern the formation of low-molecular-weight gels in the literature through rheological shear measurements during gel formation. Our experiments suggest that the proposed mechanisms are applicable to our aqueous gels, growing as anisotropic crystal networks with fractal dimensions between one and two dimensions from temporally sporadic nucleation sites.

Effect of Toluene and Hexane Sorption on the Rheology and Interfacial Properties of Lecithin-Based Emulsion Gels.

A novel sorbent material consisting of a gel made from canola oil and water, emulsified with lecithin, was used to remove two model solvents from water. Sorption capacity was quantified through small-scale batch experiments. The structure and the mechanical properties of the gel were compared with and without added solvent to assess their cohesiveness upon removing contaminants from water. Confocal microscopy showed that the initial gel consisted of water droplets clustered in a canola oil continuous phase. The G' of the gels increased with solvent absorption to a maximum at 33% (v/v) hexane or 24% (v/v) toluene. Larger absorbed volumes led to decreases in G' of the gel. G' for solvent mixtures of 50% toluene and 50% hexane was intermediate between G' measured for the same volumes of pure solvents. Confocal microscopy suggests that the decrease of G' upon addition of large solvent volumes was due to a simple dilution effect. It is hypothesized that the initial increase in storage modulus was caused by changes in the structure of the lecithin films formed at the oil-water interfaces. This hypothesis was evaluated through measurements of interfacial tension, visualization of the interface with optical microscopy, force measurements of a single droplet under compression using a cantilevered-capillary force apparatus, compressional isotherm measurements conducted using a Langmuir trough. The cantilevered-capillary force apparatus and Langmuir trough experiments demonstrated that lecithin films at the canola oil-water interface were rigidified by toluene and hexane addition.