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Current Opinion in Neurology

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https://www.readbyqxmd.com/read/28737584/update-on-new-muscle-glycogenosis
#1
Pascal Laforêt, Edoardo Malfatti, John Vissing
PURPOSE OF REVIEW: The field of muscle glycogenoses has progressed in recent years by the identification of new disorders, and by reaching a better understanding of pathophysiology of the disorders and the physiology of glycogen metabolism. RECENT FINDINGS: In this review, we describe the clinical and pathological features of the three most recently described muscle glycogenoses caused by recessive mutations in GYG1, RBCK1 and PGM1. The three involved enzymes play different roles in glycogen metabolism...
July 21, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28731862/muscle-neuromuscular-junction-and-peripheral-nerve-diseases
#2
Jean-Marc Léger
No abstract text is available yet for this article.
July 20, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28700370/neuromuscular-problems-in-the-icu
#3
Maxwell S Damian, Ravi Srinivasan
PURPOSE OF REVIEW: Patients with acute life-threatening neuromuscular disease require close cooperation between neuromuscular and intensive care specialists to achieve the best possible outcomes. The problems encountered by these patients are different from those in traditional neuromuscular practice, and neurologists consulting in the ICU need a specific skill set to provide useful guidance. However, outcomes can be very good if treatment is instituted effectively. This review aims to provide an overview of the most important neuromuscular conditions encountered in the ICU and enable a practical approach to patient management...
July 11, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28692528/editorial-a-viewpoint-on-european-standards-for-neuromuscular-training-qualification-and-certification
#4
Benedikt Schoser
No abstract text is available yet for this article.
July 7, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28682959/paraneoplastic-neuropathies
#5
Jean-Christophe Antoine, Jean-Philippe Camdessanché
PURPOSE OF REVIEW: To review recent advances in paraneoplastic neuropathies with emphasis on their definition, different forms and therapeutic development. RECENT FINDINGS: A strict definition of definite paraneoplastic neuropathies is necessary to avoid confusion. With carcinoma, seronegative sensory neuronopathies and neuronopathies and anti-Hu and anti-CV2/Contactin Response Mediator Protein 5 antibodies are the most frequent. With lymphomas, most neuropathies occur with monoclonal gammopathy including AL amyloidosis, Polyneuropathy-Organomegaly-Endocrinopathy-M component-Skin changes (POEMS) syndrome, type I cryoglobulinemia and antimyelin-associated glycoprotein (MAG) neuropathies and Waldenström's disease...
July 5, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28678039/familial-amyloid-polyneuropathy
#6
David Adams, Cécile Cauquil, Céline Labeyrie
PURPOSE OF REVIEW: Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatment's research. RECENT FINDINGS: Access to TTR gene sequencing permit diagnosis and first reports of the disease in nonendemic countries (EU countries, United States, China, India)...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28678038/new-developments-in-charcot-marie-tooth-neuropathy-and-related-diseases
#7
Davide Pareyson, Paola Saveri, Chiara Pisciotta
PURPOSE OF REVIEW: Charcot-Marie-Tooth disease (CMT) and related neuropathies represent a heterogeneous group of hereditary disorders. The present review will discuss the most recent advances in the field. RECENT FINDINGS: Knowledge of CMT epidemiology and frequency of the main associated genes is increasing, with an overall prevalence estimated at 10-28/100 000. In the last years, the huge number of newly uncovered genes, thanks to next-generation sequencing techniques, is challenging the current classification of CMT...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28678037/sporadic-late-onset-nemaline-myopathy-with-monoclonal-gammopathy-of-undetermined-significance
#8
Akinori Uruha, Olivier Benveniste
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS) is a rare subacute progressive muscle disease. The prognosis is poor due to severe respiratory insufficiency. Recently, however, autologous stem-cell transplantation following high-dose melphalan has been shown to be effective unless there is delay before the treatment. Therefore, early recognition of the disease is important. This review gives an overview of recent advances about SLONM-MGUS, which could help to understand clinical and pathological features and treatment...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28665811/small-fibre-neuropathy
#9
Daniele Cazzato, Giuseppe Lauria
PURPOSE OF REVIEW: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). RECENT FINDINGS: The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss...
June 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28665810/diabetic-myopathy-current-molecular-understanding-of-this-novel-neuromuscular-disorder
#10
Cynthia M F Monaco, Christopher G R Perry, Thomas J Hawke
PURPOSE OF REVIEW: Here we summarize the evidence from human studies of the impairments to the structural, functional, and metabolic capacities in skeletal muscle in those with type 1 diabetes (T1D) - a condition known as diabetic myopathy. Given the importance of skeletal muscle for blood lipid and glucose management, the development and progression of diabetic myopathy would not only lead to increased insulin resistance, but also impact the ability to mitigate dysglycemic/dyslipidemic burdens...
June 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28665809/the-rapid-evolution-of-molecular-genetic-diagnostics-in-neuromuscular-diseases
#11
Alexander E Volk, Christian Kubisch
PURPOSE OF REVIEW: The development of massively parallel sequencing (MPS) has revolutionized molecular genetic diagnostics in monogenic disorders. The present review gives a brief overview of different MPS-based approaches used in clinical diagnostics of neuromuscular disorders (NMDs) and highlights their advantages and limitations. RECENT FINDINGS: MPS-based approaches like gene panel sequencing, (whole) exome sequencing, (whole) genome sequencing, and RNA sequencing have been used to identify the genetic cause in NMDs...
June 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28654435/myasthenia-gravis-new-developments-in-research-and-treatment
#12
Amelia Evoli
PURPOSE OF REVIEW: Myasthenia gravis, a rare disorder of the neuromuscular transmission, is increasingly acknowledged as a syndrome more than as a single disease. This review summarizes recent advances in pathophysiology which confirm the disease heterogeneity, and may help find disease-targeted and patient-targeted therapies. RECENT FINDINGS: Antibodies to the acetylcholine receptor, the muscle-specific tyrosine kinase and the lipoprotein receptor protein 4, characterize disease subtypes with distinct clinical traits and immune-pathogenic mechanisms...
June 24, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28617719/guillain-barr%C3%A3-syndrome-and-zika-virus-outbreaks
#13
Osvaldo J M Nascimento, Ivan R F da Silva
PURPOSE OF REVIEW: Arboviruses have been associated with central and peripheral nervous system injuries, in special the flaviviruses. Guillain-Barré syndrome (GBS), transverse myelitis, meningoencephalitis, ophthalmological manifestations, and other neurological complications have been recently associated to Zika virus (ZIKV) infection. In this review, we aim to analyze the epidemiological aspects, possible pathophysiology, and what we have learned about the clinical and laboratory findings, as well as treatment of patients with ZIKV-associated neurological complications...
June 14, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28562381/respiratory-involvement-in-neuromuscular-disorders
#14
Matthias Boentert, Stephan Wenninger, Valeria A Sansone
PURPOSE OF REVIEW: In numerous neuromuscular disorders (NMDs), respiratory muscle weakness is present, and acute or chronic respiratory failure may evolve. Very often, respiratory involvement substantially adds to the burden of disease, impairs quality of life, or reduces life expectancy. This article summarizes new aspects of both diagnosis and management of respiratory muscle weakness in patients with NMDs. RECENT FINDINGS: Drugs like deflazacort, ataluren, eteplirsen, and nusinersen are now approved treatments for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, and others are on their way in NMDs...
May 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28548988/toward-precision-medicine-tailoring-interventional-strategies-based-on-noninvasive-brain-stimulation-for-motor-recovery-after-stroke
#15
Philipp J Koch, Friedhelm C Hummel
PURPOSE OF REVIEW: To support the recovery of disability and the reduced functional capacity influencing the independence of daily life after focal brain lesions like stroke, the application of noninvasive brain stimulation (NIBS) by repetitive transcranial magnetic stimulation or transcranial electric stimulation has been found useful in the last decades. Still, a positive influence on the recovery seems to be restricted to specific subgroups of patients. Therefore, a closer look on individual parameters influencing the recovery course and the effect of NIBS is needed...
May 25, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28590986/functional-movement-disorders
#16
Anita Barbey, Selma Aybek
PURPOSE OF REVIEW: The review highlights the clinical presentation of functional movement disorders (FMDs) and presents current evidence on bedside signs and paraclinical tests to differentiate them from other neurological disorders. RECENT FINDINGS: FMDs are diagnosed by the presence of positive clinical signs as emphasized in the new Diagnostic and Statistical Manual of Mental Disorders-5 classification criteria. Bedside signs are numerous, and a subset of them has been validated in controlled studies...
August 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28582324/sleep-related-movement-disorders-and-disturbances-of-motor-control
#17
Panagiotis Bargiotas, Claudio L Bassetti
PURPOSE OF REVIEW: Review of the literature pertaining to clinical presentation, classification, epidemiology, pathophysiology, diagnosis, and treatment of sleep-related movement disorders and disturbances of motor control. RECENT FINDINGS: Sleep-related movement disorders and disturbances of motor control are typically characterized by positive motor symptoms and are often associated with sleep disturbances and consequent daytime symptoms (e.g. fatigue, sleepiness)...
August 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28537993/measuring-compensation-in-neurodegeneration-using-mri
#18
Sarah Gregory, Jeffrey D Long, Sarah J Tabrizi, Geraint Rees
PURPOSE OF REVIEW: Despite signs of cortical and subcortical loss, patients with prodromal and early-stage neurodegenerative disease are able to perform at a level comparable to the normal population. It is presumed that the onset of compensatory processes, that is changes in brain activation within a function-specific network or in the recruitment of a region outside of the task-network, underlies this maintenance of normal performance. However, in most studies to date, increased brain activity is not correlated with indices of both disease and performance and what appears to be compensation could simply be a symptom of neurodegeneration...
August 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28537985/neuroimaging-in-parkinson-s-disease-focus-on-substantia-nigra-and-nigro-striatal-projection
#19
Daniela Frosini, Mirco Cosottini, Duccio Volterrani, Roberto Ceravolo
PURPOSE OF REVIEW: The diagnosis of Parkinson disease is based on clinical features; however, unmet need is an imaging signature for Parkinson disease and the early differential diagnosis with atypical parkinsonisms. A summary of the molecular imaging and MRI recent evidences for Parkinson disease diagnosis will be presented in this review. RECENT FINDINGS: The nigro-striatal dysfunction explored by dopamine transporter imaging is not a mandatory diagnostic criterion for Parkinson disease, recent evidence supported its utility as in-vivo proof of degenerative parkinsonisms, and there might be compensatory mechanisms leading to an early overestimation...
August 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28520598/imaging-plus-x-multimodal-models-of-neurodegenerative-disease
#20
Neil P Oxtoby, Daniel C Alexander
PURPOSE OF REVIEW: This article argues that the time is approaching for data-driven disease modelling to take centre stage in the study and management of neurodegenerative disease. The snowstorm of data now available to the clinician defies qualitative evaluation; the heterogeneity of data types complicates integration through traditional statistical methods; and the large datasets becoming available remain far from the big-data sizes necessary for fully data-driven machine-learning approaches...
August 2017: Current Opinion in Neurology
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