Editorial : Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

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Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG

Contains fulltext : 208143.pdf (publisher's version ) (Open Access

The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies

Blepharoptosis (ptosis) is classified, based on etiology, into mechanical, cerebral, neurogenic, neuromuscular, myogenic, and due to miscellaneous causes. Primary myopathic diseases are rare causes of blepharoptosis and many patients with myogenic ptosis undergo a series of extensive investigations before a myopathy is being considered. In this study, we report four patients with different myopathic disorders who had blepharoptosis as a presenting symptom of their disease. Moreover, we highlight frequent diagnostic errors and difficulties in patients with myopathies who present blepharoptosis. Lack of clear cut aggravation of symptoms by fatigue and response to cholinesterase inhibitors treatment, the association of proximal, distal or extraocular muscle weakness, and positive family history or evidence of a multi systemic disorder should prompt evaluation of an underlying myopathy

SDBD Flexible Plasma Actuator with Ag-Ink Electrodes: Experimental Assessment

In the present work, a single dielectric barrier discharge (SDBD)-based actuator is developed and experimentally tested by means of various diagnostic techniques. Flexible dielectric barriers and conductive paint electrodes are used, making the design concept applicable to surfaces of different aerodynamic profiles. A technical drawing of the actuator is given in detail. The plasma is sustained by audio frequency sinusoidal high voltage, while it is probed electrically and optically. The consumed electric power is measured, and the optical emission spectrum is recorded in the ultraviolet–near infrared (UV–NIR) range. High-resolution spectroscopy provides molecular rotational distributions, which are treated appropriately to evaluate the gas temperature. The plasma-induced flow field is spatiotemporally surveyed with pitot-like tube and schlieren imaging. Briefly, the actuator consumes a mean power less than 10 W and shows a fair stability over one day, the average temperature of the gas above its surface is close to 400 K, and the fluid speed rises to 4.5 m s−1. A long, thin layer (less than 1.5 mm) of laminar flow is unveiled on the actuator surface. This thin layer is interfaced with an outspread turbulent flow field, which occupies a centimeter-scale area. Molecular nitrogen-positive ions appear to be part of the charged heavy species in the generated filamentary discharge, which can transfer energy and momentum to the surrounding air molecules