ABSTRACT
INTRODUCTION: The MYH7 c.5135Gâ¯> A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database. We aimed to delineate its associated phenotype and evaluate a potential founder effect. METHODS: We retrospectively collected clinical and genetic data of 22 probands and 74 family members from an international cohort. RESULTS: In total, 53 individuals carried the MYH7 p.(Arg1712Gln) variant, of whom 38 (72%) were diagnosed with hypertrophic cardiomyopathy (HCM). Mean age at HCM diagnosis was 48.8 years (standard deviation: 18.1; range: 8-74). The clinical presentation ranged from asymptomatic HCM to arrhythmias (atrial fibrillation and malignant ventricular arrhythmias). Aborted sudden cardiac death (SCD) leading to the diagnosis of HCM occurred in one proband at the age of 68 years, and a family history of SCD was reported by 39% (5/13) probands. Neither heart failure deaths nor heart transplants were reported. Women had a generally later-onset disease, with 14% of female carriers diagnosed with HCM at age 50 years compared with 54% of male carriers. In both sexes, the disease was fully penetrant by age 75 years. Haplotypes were reconstructed for 35 patients and showed a founder effect in a subset of patients. CONCLUSION: MYH7 p.(Arg1712Gln) is a pathogenic founder variant with a consistent HCM phenotype that may present with delayed penetrance. This suggested that clinical follow-up should be pursued after the seventh decade in healthy carriers and that longer intervals between screening may be justified in healthy women <â¯30 years.
ABSTRACT
The understanding of the phenomena occurring during immersion of LiNi0.5Mn0.3Co0.2O2 (NMC) in water is helpful to devise new strategies toward the implementation of aqueous processing of this high-capacity cathode material. Immersion of NMC powder in water leads to both structural modification of the particles surface as observed by high-resolution scanning transmission electron microscopy and the formation of lithium-based compounds over the surface (LiOH, Li2CO3) in greater amount than after long-time exposure to ambient air, as confirmed by pH titration and 7Li MAS NMR analysis. The surface compounds adversely affect the electrochemical performance and are notably responsible for the alkaline pH of the aqueous slurry, which causes corrosion of the aluminum collector during coating of the electrode. The corrosion is avoided by adding phosphoric acid to the slurry as it lowers the pH, and it also enhances the cycling stability of the water-based electrodes due to the phosphate compounds formed at the particles surface, as evidenced by X-ray photoelectron spectroscopy analysis.
ABSTRACT
A battery utilizing the Galvani potential difference between aqueous and organic phases is demonstrated. The battery consists of two organic redox electrolytes separated by an immiscible aqueous phase. The charge is stored by transferring a salt from the aqueous phase into organic phases in ion transfer coupled electron transfer reactions.
