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排序方式: 共有977条查询结果,搜索用时 484 毫秒
31.
Michelangelo Mancuso Daniele Orsucci Corrado Angelini Enrico Bertini Michela Catteruccia Elena Pegoraro Valerio Carelli Maria L. Valentino Giacomo P. Comi Carlo Minetti Claudio Bruno Maurizio Moggio Elena Caldarazzo Ienco Tiziana Mongini Liliana Vercelli Guido Primiano Serenella Servidei Paola Tonin Mauro Scarpelli Antonio Toscano Olimpia Musumeci Isabella Moroni Graziella Uziel Filippo M. Santorelli Claudia Nesti Massimiliano Filosto Costanza Lamperti Massimo Zeviani Gabriele Siciliano 《Movement disorders》2014,29(6):722-728
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society 相似文献
32.
Moshe Phillip MD Chantal Mathieu MD Marcus Lind PhD Eiichi Araki MD Paolo di Bartolo MD Richard Bergenstal MD Simon Heller MD Lars Hansen MD Markus Florian Scheerer PhD Fredrik Thoren PhD Niki Arya MSc John Xu PhD Nayyar Iqbal MD Paresh Dandona MD DEPICT- DEPICT- Investigators 《Diabetes, obesity & metabolism》2021,23(2):549-560
33.
Porfidia Angelo Agostini Fabiana Giarretta Igor Tonello Diego Pastori Daniele Pignatelli Pasquale Santoliquido Angelo Sartori Michelangelo Lessiani Gianfranco Visonà Adriana Donadini Marco P. Pola Roberto 《Journal of thrombosis and thrombolysis》2020,50(2):355-360
Journal of Thrombosis and Thrombolysis - Upper-extremity deep vein thrombosis (UEDVT) accounts for about 5–10% of all cases of deep vein thrombosis (DVT). It is often associated with cancer... 相似文献
34.
Angela Bartolo Yann Coello Martin G. Edwards Samuel Delepoulle Satoshi Endo Alan M. Wing 《The European journal of neuroscience》2014,40(12):3807-3817
The present functional magnetic resonance imaging (fMRI) study investigates the neural correlates of reachability judgements. In a block design experiment, 14 healthy participants judged whether a visual target presented at different distances in a virtual environment display was reachable or not with the right hand. In two control tasks, they judged the colour or the relative position of the visual target according to flankers. Contrasting the activations registered in the reachability judgement task and in the control tasks, we found activations in the frontal structures, and in the bilateral inferior and superior parietal lobe, including the precuneus, and the bilateral cerebellum. This fronto‐parietal network including the cerebellum overlaps with the brain network usually activated during actual motor production and motor imagery. In a following event‐related design experiment, we contrasted brain activations when targets were rated as ‘reachable’ with those when they were rated as ‘unreachable’. We found activations in the left premotor cortex, the bilateral frontal structures, and the left middle temporal gyrus. At a lower threshold, we also found activations in the left motor cortex, and in the bilateral cerebellum. Given that reaction time increased with target distance in reachable space, we performed a subsequent parametric analysis that revealed a related increase of activity in the fronto‐parietal network including the cerebellum. Unreachable targets did not show similar activation, and particularly in regions associated to motor production and motor imagery. Taken together, these results suggest that dynamical motor representations used to determine what is reachable are also part of the perceptual process leading to the distinct representation of peripersonal and extrapersonal spaces. 相似文献
35.
Enes Aslan Cian Vyas Joel Yupanqui Mieles Gavin Humphreys Carl Diver Paulo Bartolo 《Materials》2022,15(1)
Skin is a hierarchical and multi-cellular organ exposed to the external environment with a key protective and regulatory role. Wounds caused by disease and trauma can lead to a loss of function, which can be debilitating and even cause death. Accelerating the natural skin healing process and minimizing the risk of infection is a clinical challenge. Electrospinning is a key technology in the development of wound dressings and skin substitutes as it enables extracellular matrix-mimicking fibrous structures and delivery of bioactive materials. Honey is a promising biomaterial for use in skin tissue engineering applications and has antimicrobial properties and potential tissue regenerative properties. This preliminary study investigates a solution electrospun composite nanofibrous mesh based on polycaprolactone and a medical grade honey, SurgihoneyRO. The processing conditions were optimized and assessed by scanning electron microscopy to fabricate meshes with uniform fiber diameters and minimal presence of beads. The chemistry of the composite meshes was examined using Fourier transform infrared spectroscopy and X-ray photon spectroscopy showing incorporation of honey into the polymer matrix. Meshes incorporating honey had lower mechanical properties due to lower polymer content but were more hydrophilic, resulting in an increase in swelling and an accelerated degradation profile. The biocompatibility of the meshes was assessed using human dermal fibroblasts and adipose-derived stem cells, which showed comparable or higher cell metabolic activity and viability for SurgihoneyRO-containing meshes compared to polycaprolactone only meshes. The meshes showed no antibacterial properties in a disk diffusion test due to a lack of hydrogen peroxide production and release. The developed polycaprolactone-honey nanofibrous meshes have potential for use in skin applications. 相似文献
36.
37.
Michelangelo Mancuso Daniele Orsucci Corrado Angelini Enrico Bertini Valerio Carelli Giacomo Pietro Comi Maria Alice Donati Antonio Federico Carlo Minetti Maurizio Moggio Tiziana Mongini Filippo Maria Santorelli Serenella Servidei Paola Tonin Antonio Toscano Claudio Bruno Luca Bello Elena Caldarazzo Ienco Elena Cardaioli Michela Catteruccia Paola Da Pozzo Massimiliano Filosto Costanza Lamperti Isabella Moroni Olimpia Musumeci Elena Pegoraro Dario Ronchi Donato Sauchelli Mauro Scarpelli Monica Sciacco Maria Lucia Valentino Liliana Vercelli Massimo Zeviani Gabriele Siciliano 《Journal of neurology》2015,262(5):1301-1309
38.
Cristina De Castro Antonio Molinaro Francesco Piacente James R. Gurnon Luisa Sturiale Angelo Palmigiano Rosa Lanzetta Michelangelo Parrilli Domenico Garozzo Michela G. Tonetti James L. Van Etten 《Proceedings of the National Academy of Sciences of the United States of America》2013,110(34):13956-13960
The major capsid protein Vp54 from the prototype chlorovirus Paramecium bursaria chlorella virus 1 (PBCV-1) contains four Asn-linked glycans. The structure of the four N-linked oligosaccharides and the type of substitution at each glycosylation site was determined by chemical, spectroscopic, and spectrometric analyses. Vp54 glycosylation is unusual in many ways, including: (i) unlike most viruses, PBCV-1 encodes most, if not all, of the machinery to glycosylate its major capsid protein; (ii) the glycans are attached to the protein by a β-glucose linkage; (iii) the Asn-linked glycans are not located in a typical N-X-(T/S) consensus site; and (iv) the process probably occurs in the cytoplasm. The four glycoforms share a common core structure, and the differences are related to the nonstoichiometric presence of two monosaccharides. The most abundant glycoform consists of nine neutral monosaccharide residues, organized in a highly branched fashion. Among the most distinctive features of the glycoforms are (i) a dimethylated rhamnose as the capping residue of the main chain, (ii) a hyperbranched fucose unit, and (iii) two rhamnose residues with opposite absolute configurations. These glycoforms differ from what has been reported so far in the three domains of life. Considering that chloroviruses and other members of the family Phycodnaviridae may have a long evolutionary history, we suggest that the chlorovirus glycosylation pathway is ancient, possibly existing before the development of the endoplasmic reticulum and Golgi pathway, and involves still unexplored mechanisms. 相似文献
39.
Michelangelo Iannone Donato Cosco Felisa Cilurzo Christian Celia Donatella Paolino Vincenzo Mollace Domenicantonio Rotiroti Massimo Fresta 《Neuroscience letters》2010
The purpose of this investigation was to explore the potentiality of a novel animal model to be used for the in vivo evaluation of the ability of a drug delivery system to promote the passage through the blood–brain barrier (BBB) and/or to improve the brain localization of a bioactive compound. A Tween 80®-coated poly-l-lactid acid nanoparticles was used as a model of colloidal drug delivery system, able to trespass the BBB. Tacrine, administered in LiCl pre-treated rats, induces electrocorticographic seizures and delayed hippocampal damage. The toxic effects of tacrine-loaded poly-l-lactid acid nanoparticles (5 mg/kg), a saline solution of tacrine (5 mg/kg) and an empty colloidal nanoparticle suspension were compared following i.p. administration in LiCl-pre-treated Wistar rats. All the animals treated with tacrine-loaded nanoparticles showed an earlier outcome of CNS adverse symptoms, i.e. epileptic onset, with respect to those animals treated with the free compound (10 min vs. 22 min respectively). In addition, tacrine-loaded nanoparticles administration induced damage of neuronal cells in CA1 field of the hippocampus in all treated animals, while the saline solution of tacrine only in 60% of animals. Empty nanoparticles provided similar results to control (saline-treated) group of animals. In conclusion, the evaluation of time-to-onset of symptoms and the severity of neurodegenerative processes induced by the tacrine–lithium model of epilepsy in the rat, could be used to evaluate preliminarily the capability of a drug delivery system to trespass (or not) the BBB in vivo. 相似文献
40.
The natural history of isolated distal deep-vein thrombosis (IDDVT) is still uncertain, as well as the real clinical risks associated with the disease and the need for its diagnosis and treatment. While more and more IDDVTs are diagnosed in everyday clinical practice, their appropriate therapeutic management is, unfortunately, far from straightforward, and different recommendations on how patients with diagnosed IDDVT should be treated are present between expert professionals and even among international guidelines. The present article aims at briefly reviewing the issue of IDDVT therapy in general, particularly focusing on the different approaches to the treatment of the disease that have been suggested by recent guidelines, those that are currently adopted in clinical practice, and necessary future directions. 相似文献