The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders. Based on our observations and our recent proposals in other neurogenetic conditions and informal discussions with specialists of neuromuscular disorders, the prerequisite for a simple and sound classification for inherited muscular disorders should encompass the clinical and pathological phenotypes (described in a simple and clear manner), the mode of inheritance, and the mutated gene. We think that the denomination of the different subtypes could be simplified considerably, although any new proposal of classification of muscular disorders will need to be discussed in the neurological and genetic communities.

The valorization of lignocellulosic biomass as a renewable carbon source is growing in chemical industries, particularly in the agro-industrial sector. Many chemicals compounds and bio-based intermediates can be produced but their production needs to be more cost-competitive. The valorization of pentoses in hemicellulosic hydrolysates, obtained by using dilute sulfuric acid, is of growing interest. However, current downstream processes which involve a partial or complete neutralization of the acid are not satisfactory for economic and environmental reasons. This work presents a method of purification of pentoses with sulfuric acid recovery which reduces water and chemicals consumptions. The results obtained at the laboratory scale with wheat bran hydrolysates are very promising. The process is based on the combination of ultrafiltration, conventional electrodialysis and ion-exchange. A special organic OF membrane (Alpha Laval - UFX10pHt), resistant to acidic conditions, removed totally macromolecules which can damage the electrodialysis unit by precipitation, with good mean permeate flow rate (24 L h(-1) m(-2) till VCF =3D 4.4). Then, conventional electrodialysis was performed to recover most of sulfuric acid (>80%) without losing sugars (<1%) with an acceptable faradic yield (70%). The specific energy consumption of the electrodialysis stack was interesting (0.6 kWh per kg of H2SO4 recovered and 4.2 kWh per m(3) of hydrolysate). Finally, the complete demineralization (conductivity <10 mu S cm(-1)) and discoloration (420 nm absorbance <0.01) of the pentoses solution was obtained by ion-exchange with about a 10-fold increase of resins capacity (20 BV) compared to conventional processes with a neutralization step (2 BV). (C) 2016 Elsevier B.V. All rights reserved.

Introduction:Giant cell arteritis (GCA), a vasculitis involving large-sized and medium-sized vessels (which most commonly involves temporal arteries), is easily recognized in older patients presenting with headache, scalp tenderness, and raised inflammatory markers. Neurological complications (either central or peripheral) are classically described in GCA.Case Report:We report the case of an 85-year-old woman with bilateral acute brachial radiculoplexopathy, a rare neurological complication of GCA. She also presented right oculomotor palsy (with ptosis) and raised inflammatory markers, but she did not complain of the other classic cranial symptoms of the disease. We compare this case with 16 similar cases reported in the medical literature.Conclusions:In assessing a patient over 50 years of age with unexplained (unilateral or bilateral) brachial radiculoplexopathy (especially if C5-C6 nerve roots are affected) and elevated inflammatory markers, we would recommend specific enquiries with regard to the manifestations of GCA. The purpose is to reduce the risk of missing the wider spectrum of this condition and minimize the subsequent risk for disability of this treatable disease.

The agro-industrial sector generates large amounts of coproducts such as lignocellulosic biomass which could be valorized into many chemicals and bio-based intermediates (sugars, paper pulp, surfactants, polymers or bioethanol). However, in the case of biomass hydrolysis by diluted sulfuric acid, current downstream processes involve a partial or complete neutralization which are not satisfactory for economic and environmental reasons. This work presents a purification process of pentoses from hemicellulosic hydrolysates without neutralization for sulfuric acid recovery. Compared to conventional processes, less energy, water and chemicals are required. Very promising results were obtained at pilot scale with 100 L of wheat bran hydrolysates. The process is based on the combination of ultrafiltration, Conventional electrodialysis and ion-exchange. Ultrafiltration with a 10 kDa organic membrane totally removed harmful macromolecules which precipitate during electrodialysis operation because of pH rise. Till a volumetric concentration factor 3.6, the average flux kept good for industrial application (27 L h(-1)m(-2)). However suspended materials have to be filtered before ultrafiltration. Besides, a 2.5 diafiltration is required to recover most of sugars (99%): Then conventional electrodialysis was performed to recover most of sulfuric acid (80%). The average faradic yield was quite good (80%) and the specific energy consumption of the electrodialysis stack was quite interesting (1.1 kW h per kg of H2SO4 recovered and 8.4 kW h per m(3) of hydrolysate). Finally, the complete demineralization (conductivity < 10 mu S cm(-1)) and discoloration (420 nm absorbance < 0.01) of the sugars solution was performed by ion-exchange and an activated carbon polishing treatment. The sugars purity was close to 100% meanwhile the overall sugars recovery rate reach about 90%. Finally we checked that the reused sulfuric acid solution was as efficient as a fresh one in a second hydrolysis operation of wheat bran. Recovery rates could be increased by a scale-up operation or a continuous mode of the process. (C) 2016 Elsevier B.V. All rights reserved.

INTRODUCTION: Peripheral neuropathy is a common symptom throughout the population, with numerous possible etiologies. The diagnosis of peripheral neuropathies (and their causes) is mainly based on clinical, electrophysiological, biological, and imaging features. Areas covered: This paper reviews the main causes of neuropathy and discusses the usefulness of nerve biopsy (NB) in such cases. Expert commentary: In most cases, NB is not mandatory in the diagnostic work-up of a peripheral neuropathy. However, NB is clearly an indication in cases of vasculitis. It is also valuable in peripheral neuropathies with severe and rapid worsening (without clear cause) in order to uncover a pathological hallmark (amyloid deposits). Although NB is considered an invasive method, it may be useful in the management of peripheral neuropathy, especially to guide treatment in certain cases. In summary, although NB is not a systematic procedure, it is a useful tool that should be discussed on a case-by-case basis within the clinical context.=20

Introduction: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. Methods: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. Results: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.-32-13 T>G). Conclusion: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment.