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Peter W Barlow
No abstract text is available yet for this article.
March 6, 2018: Plant Signaling & Behavior
Philippe Corcia, Patrick Vourc'h, Helene Blasco, Philippe Couratier, Audrey Dangoumau, Remi Bellance, Claude Desnuelle, Fausto Viader, Vivien Pautot, Stephanie Millecamps, Salah Bakkouche, FranÇois Salachas, Christian R Andres, Vincent Meininger, William Camu
BACKGROUND: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients...
March 1, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
M Farkhondeh Fal, J Kircher
Shoulder arthroplasties in specialized centers are routine procedures with an increasing number of operations in the developed countries. Restoration of pain free shoulder function requires an intensive, specific and individual rehabilitation program for each patient. There is a phase-like course with different specific demands and measures that extends over a period of several weeks. Return to sport and a pain free function for activities of daily living resulting in a high patient satisfaction can routinely be expected...
February 22, 2018: Der Orthopäde
Hamid Hamzeiy, Doruk Savaş, Ceren Tunca, Nesli Ece Şen, Aslı Gündoğdu Eken, Irmak Şahbaz, Daniela Calini, Cinzia Tiloca, Nicola Ticozzi, Antonia Ratti, Vincenzo Silani, A Nazlı Başak
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2-7% on average for sALS (p < 0...
February 9, 2018: Neuro-degenerative Diseases
Rosa Campopiano, Larisa Ryskalin, Emiliano Giardina, Stefania Zampatti, Carla L Busceti, Francesca Biagioni, Rosangela Ferese, Marianna Storto, Stefano Gambardella, Francesco Fornai
Amyotrophic lateral sclerosis (ALS) is fatal neurodegenerative disease clinically characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease, and over the last decade, identification of mutations in about 20 genes predisposing to these disorders has provided the means to better understand their pathogenesis. Next Generation sequencing (NGS) is an advanced high-throughput DNA sequencing technology which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic neurological and neurodegenerative diseases...
December 1, 2017: Archives Italiennes de Biologie
Joshua L Heuslein, Stephanie P McDonnell, Ji Song, Brian H Annex, Richard J Price
The growth of endogenous collateral arteries that bypass arterial occlusion(s), or arteriogenesis, is a fundamental shear stress-induced adaptation with implications for treating peripheral arterial disease. MicroRNAs (miRs) are key regulators of gene expression in response to injury and have strong therapeutic potential. In a previous study, we identified miR-146a as a candidate regulator of vascular remodeling. Here, we tested whether miR-146a regulates in vitro angiogenic endothelial cell (EC) behaviors, as well as perfusion recovery, arteriogenesis, and angiogenesis in response to femoral arterial ligation (FAL) in vivo...
2018: Frontiers in Bioengineering and Biotechnology
Orly Goldstein, Mali Gana-Weisz, Beatrice Nefussy, Batel Vainer, Omri Nayshool, Anat Bar-Shira, Bryan J Traynor, Vivian E Drory, Avi Orr-Urtreger
We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001). In NAJ, 10% of fALS and 9% of sporadic ALS carried the RE, a total of 9.1% of all NAJ-ALS compared to 1% in controls (OR = 9...
December 27, 2017: Neurobiology of Aging
Daniela Recabarren-Leiva, Marcelo Alarcón
Amyotrophic lateral sclerosis (ALS) is the most prevalent neuromuscular disease worldwide. It is a lethal and progressive neurodegenerative disease, principally affecting motor neurons; patient clinical characteristics are muscle weakness, dysphagia and respiratory failure. The mean age is related to family history (40years, familial ALS or FALS) or with no family history (50years), but it is more common in people aged 60-69years. The cause of ALS is not known and it is not known yet why it affects some people and not others...
December 11, 2017: Life Sciences
Enrico Luchinat, Letizia Barbieri, Lucia Banci
Superoxide dismutase 1 (SOD1) is an important metalloprotein for cellular oxidative stress defence, that is mutated in familiar variants of Amyotrophic Lateral Sclerosis (fALS). Some mutations destabilize the apo protein, leading to the formation of misfolded, toxic species. The Copper Chaperone for SOD1 (CCS) transiently interacts with SOD1 and promotes its correct maturation by transferring copper and catalyzing disulfide bond formation. By in vitro and in-cell NMR, we investigated the role of the SOD-like domain of CCS (CCS-D2)...
December 12, 2017: Scientific Reports
Min Xu, Xiaoli Zhu, Yizhi Liu, Zhi Li, Tianzhi An, Tianpeng Jiang, Jie Song, Lizhou Wang, Shi Zhou, Caifang Ni
BACKGROUND: To investigate the safety and effectiveness of Fuaile medical adhesive (FAL) with superselective catheterization in endovascular embolotherapy for the treatment of gastrointestinal hemorrhage (GIH) that was unresponsive to internal medicine treatment and gastroscopy management. METHODS: A total of 25 patients with GIH, confirmed using angiography but with failed results after internal medicine treatment or gastroscopy were retrospectively analyzed. A mixture of lipiodol and FAL (1:1) was used to embolize the bleeding vessels...
November 30, 2017: Journal of the Chinese Medical Association: JCMA
Punam P Parikh, Diego Castilla, Roberta M Lassance-Soares, Hongwei Shao, Manuela Regueiro, Yan Li, Roberto Vazquez-Padron, Keith A Webster, Zhao-Jun Liu, Omaida C Velazquez
BACKGROUND: Lack of a reliable hind limb gangrene animal model limits preclinical studies of gangrene, a severe form of critical limb ischemia. We develop a novel mouse hind limb gangrene model to facilitate translational studies. METHODS: BALB/c, FVB, and C57BL/6 mice underwent femoral artery ligation (FAL) with or without administration of NG -nitro-L-arginine methyl ester (L-NAME), an endothelial nitric oxide synthase inhibitor. Gangrene was assessed using standardized ischemia scores ranging from 0 (no gangrene) to 12 (forefoot gangrene)...
November 29, 2017: Annals of Vascular Surgery
Nazanin Rahmani Kondori, Praveen Paul, Jacqueline P Robbins, Ke Liu, John C W Hildyard, Dominic J Wells, Jacqueline S de Belleroche
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial advances in understanding ALS disease mechanisms has come from the identification of pathogenic mutations in dominantly inherited familial ALS (FALS). We previously reported a coding mutation in D-amino acid oxidase (DAOR199W) associated with FALS. DAO metabolises D-serine, an essential co-agonist at the N-Methyl-D-aspartic acid glutamate receptor subtype (NMDAR)...
2017: PloS One
Audrey Verma, René van der Wal, Anke Fischer
New technologies have increasingly featured in environmental conservation conflicts. We examined the deployment of imaging devices such as sonar equipment and cameras to survey the Fal estuary in Cornwall, UK. Due to heavy use of these waters, there have been several disputes coalescing around protected marine features, including the estuary's rare maerl beds. A comparison of two cases, scallop dredging and docks development, showed technical instruments being deployed to produce information about the marine environment as evidence to inform decision-making...
2017: Human Ecology: An Interdisciplinary Journal
Wenhao Luo, Ernst R H van Eck, Pieter C A Bruijnincx, Bert M Weckhuysen
The influence of a highly oxygenated, polar protic reaction medium, that is, levulinic acid in 2-ethylhexanoic acid, on the dealumination of two zeolite-supported ruthenium catalysts, namely Ru/H-β and Ru/H-ZSM-5, has been investigated by (27) Al triple-quantum magic-angle spinning nuclear magnetic resonance spectroscopy (3QMAS NMR). Upon use of these catalysts in the hydrogenation of levulinic acid, the heterogeneity in aluminum speciation is found to increase for both Ru/H-ZSM-5 and Ru/H-β. For Ru/H-ZSM-5, the symmetric, tetrahedral framework aluminum species (FAL) were found to be mainly converted into distorted tetrahedral FAL species, with limited loss of aluminum to the solution by leaching...
November 22, 2017: Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry
Dharma Rao Tompa, Saraboji Kadhirvel
Human superoxide dismutase (Cu/Zn SOD1) is a homodimeric enzyme. Mutations in Cu/Zn SOD1 causes a familial form of amyotrophic lateral sclerosis (fALS), and aggregation of mutant SOD1 has been proposed to play a role in neurodegeneration. Though a majority of the mutations are point substitutions, there are a few changes that result in amino acid deletions or truncations of the polypeptide. These pathogenic mutations are scattered throughout the three-dimensional structure of the dimeric enzyme, which creates a puzzling pattern to investigate the molecular determinants of fALS...
December 7, 2017: Journal of Biomolecular Structure & Dynamics
О I Guliy, B D Zaitsev, I A Borodina, А М Shikhabudinov, S А Staroverov, L A Dykman, A S Fomin
The electro-acoustical sensor for the real-time identification of the bacteriophage FAl-SR65 is described. The polyclonal antibodies specific to the bacteriophage FAl-SR65 were for the first time obtained, and the possibility of their application to the bacteriophage detection by using the electro-acoustical method of analysis was also studied for the first time. The electro-acoustical sensor was based on the lateral electric field excited piezoelectric resonator. The frequency dependences of the real and imaginary parts of the electrical impedance of such a resonator, loaded with the virus-antibody suspension, significantly differed from those measured for the same resonator with the same virus suspension but without antibodies (control)...
February 1, 2018: Talanta
Nivya James, V Shanthi, K Ramanathan
The increasing death rates related to anaplastic lymphoma kinase (ALK)-positive lung cancer culminated in a significant interest in the discovery of novel inhibitors for ALK. In the present research work, pharmacophore-based 3D QSAR modeling and virtual screening strategy have been carried out to address these issues. Initially, a five-point pharmacophore model was developed using the biological data of 50 compounds which includes an FDA-approved ALK inhibitor, crizotinib. Using the generated pharmacophore, a 3D QSAR model was developed and used as a query to screen the DrugBank database...
November 13, 2017: Applied Biochemistry and Biotechnology
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
Nauman Hashmani, Sharif Hashmani, Priyanka Ramesh, Hina Rajani, Junaid Ahmed, Jaish Kumar, Arun Kumar, Munira Jamali
Purpose To compare visual outcomes and satisfaction among patients of photorefractive keratectomy (PRK; Wavelight EX 500, Alcon, Ft Worth, TX, USA) and femtosecond laser-assisted in situ keratomileusis (FAL; Wavelight FS 200 laser and Wavelight EX 500, Alcon, Ft Worth, TX, USA). Methods We performed a retrospective study of 409 eyes in 207 patients that underwent either PRK (n=90) or FAL (n=117) at the two centers of Hashmanis Hospital, Karachi, Pakistan. The included refractive outcomes were sphere diopters (D), cylinder D, and spherical equivalent D...
September 1, 2017: Curēus
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