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https://www.selleckchem.com/products/gs-9973.html KGaA, Weinheim.Biallelic mutations in ECHS1, encoding the mitochondrial enoyl-CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia-ataxia syndrome with hearing loss and a peculiar torsional nystagmus observed in two adult siblings. The presence of a 0.9-ppm peak at MR spectroscopy analysis suggested the accumulation of branched-chain amino acids. Exome sequencing in index probands identified two ECHS1 mutations, one of which was novel (p.V82L). ECHS1 protein levels and residual activities were reduced in patients' fibroblasts. This paper expands the phenotypic spectrum observed in patients with impaired valine catabolism. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.PURPOSE To develop and validate the operational definition (ODs) for each defining characteristic (DC) contained in the Nursing Diagnosis (ND) "insomnia" (00095) in the occupational health context. METHODS Methodological study carried out in two stages, including a consensus of experts to develop the ODs (Stage 1) and an online Delphi panel, performed in two rounds, to validate them (Stage 2). FINDINGS The 15 ODs proposed in Stage 1 were narrowed down to six validated ODs in the first round (diagnostic content validity index [DCVI] = 0.80-0.89). In the second round, five ODs were validated (DCVI = 0.80-0.94). Finally, the remaining four ODs were validated by the general consensus of experts. CONCLUSIONS The ODs were validated, although there remains some doubt as to whether some of the DCs can be applied to the field of occupational health. IMPLICATIONS FOR NURSING PRACTICE The ODs developed and validated could improve the diagnostic accuracy of the ND "insomnia" (00095) in the context of occupational health. © 2020 NANDA Internation

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