keyword
MENU ▼
Read by QxMD icon Read
search

Precision medicine neurology

keyword
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#1
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29114077/the-ubiquitin-e3-ligase-traf6-exacerbates-ischemic-stroke-by-ubiquitinating-and-activating-rac1
#2
Tao Li, Juan-Juan Qin, Xia Yang, Yan-Xiao Ji, Fangliang Guo, Wen-Lin Cheng, Xiaolin Wu, Fu-Han Gong, Ying Hong, Xue-Yong Zhu, Jun Gong, Zhihua Wang, Zan Huang, Zhi-Gang She, Hongliang Li
Stroke is one of the leading causes of morbidity and mortality worldwide. Inflammation, oxidative stress, apoptosis, and excitotoxicity contribute to neuronal death during ischemic stroke; however, the mechanisms underlying these complicated pathophysiological processes remain to be fully elucidated. Here, we found that the expression of tumor necrosis factor receptor-associated factor 6 (TRAF6) was markedly increased after cerebral ischemia/reperfusion (I/R) in mice. TRAF6 ablation in male mice decreased the infarct volume and neurological deficit scores, and decreased pro-inflammatory signaling, oxidative stress and neuronal death after cerebral I/R, whereas transgenic overexpression of TRAF6 in male mice exhibited opposite effects...
November 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29059494/molecular-based-diagnosis-of-multiple-sclerosis-and-its-progressive-stage
#3
Christopher Barbour, Peter Kosa, Mika Komori, Makoto Tanigawa, Ruturaj Masvekar, Tianxia Wu, Kory Johnson, Panagiotis Douvaras, Valentina Fossati, Ronald Herbst, Yue Wang, Keith Tan, Mark Greenwood, Bibiana Bielekova
OBJECTIVE: Biomarkers aid diagnosis, allow inexpensive screening of therapies and guide selection of patient-specific therapeutic regimens in most internal medicine disciplines. In contrast, neurology lacks validated measurements of the physiological status, or dysfunction(s) of cells of the central nervous system (CNS). Accordingly, patients with chronic neurological diseases are often treated with a single disease-modifying therapy without understanding patient-specific drivers of disability...
October 23, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28929311/tbi-rehabilomics-research-an-exemplar-of-a-biomarker-based-approach-to-precision-care-for-populations-with-disability
#4
REVIEW
Amy K Wagner
PURPOSE OF REVIEW: The purpose of this review is to summarize how "-omics" technologies can inform rehabilitation-relevant outcomes for a range of populations with neurologically related disability by including outcome metrics linked to the World Health Organization's International Classification of Functioning, Disability, and Health (WHO-ICF) domains of impairments in body function, activity limitations, and participation restrictions. RECENT FINDINGS: To date, nearly every area of medicine uses biomarkers in some capacity to aid in understanding how personal biology informs clinical care...
September 19, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28927210/navigation-and-image-injection-for-control-of-bone-removal-and-osteotomy-planes-in-spine-surgery
#5
Michael Kosterhon, Angelika Gutenberg, Sven Rainer Kantelhardt, Elefterios Archavlis, Alf Giese
BACKGROUND AND IMPORTANCE: In contrast to cranial interventions, neuronavigation in spinal surgery is used in few applications, not tapping into its full technological potential. We have developed a method to preoperatively create virtual resection planes and volumes for spinal osteotomies and export 3-D operation plans to a navigation system controlling intraoperative visualization using a surgical microscope's head-up display. The method was developed using a Sawbone ® model of the lumbar spine, demonstrating feasibility with high precision...
April 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28882919/a-randomised-controlled-cross-over-double-blind-pilot-study-protocol-on-thc-cbd-oromucosal-spray-efficacy-as-an-add-on-therapy-for-post-stroke-spasticity
#6
Lucio Marinelli, Maurizio Balestrino, Laura Mori, Luca Puce, Gian Marco Rosa, Laura Giorello, Antonio Currà, Francesco Fattapposta, Carlo Serrati, Carlo Gandolfo, Giovanni Abbruzzese, Carlo Trompetto
INTRODUCTION: Stroke is the most disabling neurological disorder and often causes spasticity. Transmucosal cannabinoids (tetrahydrocannabinol and cannabidiol (THC:CBD), Sativex) is currently available to treat spasticity-associated symptoms in patients with multiple sclerosis. Cannabinoids are being considered useful also in the treatment of pain, nausea and epilepsy, but may bear and increased risk for cardiovascular events. Spasticity is often assessed with subjective and clinical rating scales, which are unable to measure the increased excitability of the monosynaptic reflex, considered the hallmark of spasticity...
September 7, 2017: BMJ Open
https://www.readbyqxmd.com/read/28835066/-attaching-importance-to-molecular-imaging-techniques-and-promoting-precision-diagnosis-in-burns
#7
Y M Yu, X Peng
The explosive growth and advancement of computer science in recent decades have prompted the rapid development and wide applications of imaging techniques in life science, which have brought about revolutionary changes in modern medicine. Nowadays, it is possible to visualize multiple physiological and disease processes, precisely and non-invasively, in a living human body. Modern medicine has even started"reading the mind", to diagnose psychology, behavior and degenerative disorders of human brain. The border between the organic and inorganic diseases in old dogma is disappearing because imaging techniques have"visualized"the neurological and tissue changes of inorganic disorders...
August 20, 2017: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/28774809/towards-diversity-in-genomics-the-emergence-of-neurogenomics-in-africa
#8
Emmanuel Quansah, Nathaniel W McGregor
There is a high burden of mental and neurological disorders in Africa. Nevertheless, there appears to be an under-representation of African ancestry populations in large-scale genomic studies. Here, we evaluated the extent of under-representation of Africans in neurogenomic studies in the GWAS Catalog. We found 569 neurogenomic studies, of which 88.9% were exclusively focused on people with European ancestry and the remaining 11.1% having African ancestry cases included. In terms of population, only 1.2% of the total populations involved in these 569 GWAS studies were of African descent...
August 1, 2017: Genomics
https://www.readbyqxmd.com/read/28697713/an-update-of-the-italian-stroke-organization-stroke-prevention-awareness-diffusion-group-guidelines-on-carotid-endarterectomy-and-stenting-a-personalized-medicine-approach
#9
Gaetano Lanza, Carlo Setacci, Stefano Ricci, Patrizio Castelli, Alberto Cremonesi, Jessica Lanza, Claudio Novali, Carlo Pratesi, Paola Santalucia, Francesco Speziale, Augusto Zaninelli, Gian Franco Gensini
Although proof-based medicine has generated much valid evidence for the drawing up of guidelines and recommendations for best clinical practice in symptomatic and asymptomatic carotid stenosis, whether and when it is better to employ endarterectomy or stenting as the intervention of choice still remain matters of debate. Moreover, guidelines have been targeted up to now to the 'representative' patient, as resulting from the statistical analyses of the studies conducted on the safety and efficacy of both interventions as well as on medical therapy alone...
July 2017: International Journal of Stroke: Official Journal of the International Stroke Society
https://www.readbyqxmd.com/read/28650065/review-of-the-novelties-from-the-32nd-ectrims-congress-2016-presented-at-the-9th-post-ectrims-meeting-i
#10
REVIEW
O Fernandez, A Oterino, C Oreja-Guevara, J M Prieto, M M Mendibe-Bilbao, J A Garcia-Merino, Ll Ramio-Torrenta, R Ginestal, J E Meca-Lallana, L Romero-Pinel, D Munoz, P Oliva-Nacarino, M C Calles-Hernandez, G Izquierdo, M L Martinez-Gines, A Saiz, M Comabella, B Casanova-Estruch, Ll Brieva, R Arroyo, A Rodriguez-Antiguedad
For the ninth year in a row the Post-ECTRIMS Meeting has been held in Madrid (Spain) with the aim of presenting and discussing the hottest issues debated at the ECTRIMS Congress by renowned specialists in multiple sclerosis in our country. One outcome of this scientific activity, endorsed by the Spanish Neurology Society, is this review article, which is published in two parts. This first part addresses family planning, pregnancy management and the role of breastfeeding in women with multiple sclerosis. Attention is drawn to the paediatric population, to magnetic resonance imaging features and to the genetic-environmental risk factors for developing the disease in children, without neglecting the risk factors for development in adults...
July 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28585295/bioinspired-collagen-scaffolds-in-cranial-bone-regeneration-from-bedside-to-bench
#11
REVIEW
Justine C Lee, Elizabeth J Volpicelli
Calvarial defects are common reconstructive dilemmas secondary to a variety of etiologies including traumatic brain injury, cerebrovascular disease, oncologic resection, and congenital anomalies. Reconstruction of the calvarium is generally undertaken for the purposes of cerebral protection, contour restoration for psychosocial well-being, and normalization of neurological dysfunction frequently found in patients with massive cranial defects. Current methods for reconstruction using autologous grafts, allogeneic grafts, or alloplastic materials have significant drawbacks that are unique to each material...
September 2017: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/28509324/three-dimensional-neurosonography-a-novel-field-in-fetal-medicine
#12
Michał Lipa, Ritsuko Kimata Pooh, Mirosław Wielgoś
Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28458147/analysis-of-gait-symmetry-during-over-ground-walking-in-children-with-autism-spectrum-disorder
#13
Jeffrey D Eggleston, John R Harry, Robbin A Hickman, Janet S Dufek
Gait symmetry is utilized as an indicator of neurologic function. Healthy gait often exhibits minimal asymmetries, while pathological gait exhibits exaggerated asymmetries. The purpose of this study was to examine symmetry of mechanical gait parameters during over-ground walking in children with Autism Spectrum Disorder (ASD). Kinematic and kinetic data were obtained from 10 children (aged 5-12 years) with ASD. The Model Statistic procedure (α=0.05) was used to compare gait related parameters between limbs...
April 21, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28452348/wincs-harmoni-closed-loop-dynamic-neurochemical-control-of-therapeutic-interventions
#14
Kendall H Lee, J Luis Lujan, James K Trevathan, Erika K Ross, John J Bartoletta, Hyung Ook Park, Seungleal Brian Paek, Evan N Nicolai, Jannifer H Lee, Hoon-Ki Min, Christopher J Kimble, Charles D Blaha, Kevin E Bennet
There has been significant progress in understanding the role of neurotransmitters in normal and pathologic brain function. However, preclinical trials aimed at improving therapeutic interventions do not take advantage of real-time in vivo neurochemical changes in dynamic brain processes such as disease progression and response to pharmacologic, cognitive, behavioral, and neuromodulation therapies. This is due in part to a lack of flexible research tools that allow in vivo measurement of the dynamic changes in brain chemistry...
April 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28450832/transcranial-electric-stimulation-for-precision-medicine-a-spatiomechanistic-framework
#15
Fatemeh Yavari, Michael A Nitsche, Hamed Ekhtiari
During recent years, non-invasive brain stimulation, including transcranial electrical stimulation (tES) in general, and transcranial direct current stimulation (tDCS) in particular, have created new hopes for treatment of neurological and psychiatric diseases. Despite promising primary results in some brain disorders, a more widespread application of tES is hindered by the unsolved question of determining optimum stimulation protocols to receive meaningful therapeutic effects. tES has a large parameter space including various montages and stimulation parameters...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28392281/human-stem-cell-modeling-in-neurofibromatosis-type-1-nf1
#16
REVIEW
Michelle L Wegscheid, Corina Anastasaki, David H Gutmann
The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression...
April 6, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28350105/inflammatory-role-of-high-salt-level-in-tumor-microenvironment-review
#17
REVIEW
Suneetha Amara, Venkataswarup Tiriveedhi
Chronic inflammation is known to play a critical role in cancer development and progression. High salt is known to mediate several chronic inflammatory diseases including hypertension, myocardial infarction, neurological ischemic attack, autoimmune diseases and cancers. High salt level is shown to induce angiogenesis and immune-dysfunction, both of which play a direct role in cancer proliferation. Furthermore, salt has been suggested to enhance Warburg-like metabolic phenotype in cancer cells and at the same time also induce pro-tumor MΦ2-macrophage phenotype...
May 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28344933/precision-medicine-the-golden-gate-for-detection-treatment-and-prevention-of-alzheimer-s-disease
#18
H Hampel, S E O'Bryant, J I Castrillo, C Ritchie, K Rojkova, K Broich, N Benda, R Nisticò, R A Frank, B Dubois, V Escott-Price, S Lista
During this decade, breakthrough conceptual shifts have commenced to emerge in the field of Alzheimer's disease (AD) recognizing risk factors and the non-linear dynamic continuum of complex pathophysiologies amongst a wide dimensional spectrum of multi-factorial brain proteinopathies/neurodegenerative diseases. As is the case in most fields of medicine, substantial advancements in detecting, treating and preventing AD will likely evolve from the generation and implementation of a systematic precision medicine strategy...
December 2016: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/28286989/a-precision-medicine-initiative-for-alzheimer-s-disease-the-road-ahead-to-biomarker-guided-integrative-disease-modeling
#19
REVIEW
H Hampel, S E O'Bryant, S Durrleman, E Younesi, K Rojkova, V Escott-Price, J-C Corvol, K Broich, B Dubois, S Lista
After intense scientific exploration and more than a decade of failed trials, Alzheimer's disease (AD) remains a fatal global epidemic. A traditional research and drug development paradigm continues to target heterogeneous late-stage clinically phenotyped patients with single 'magic bullet' drugs. Here, we propose that it is time for a paradigm shift towards the implementation of precision medicine (PM) for enhanced risk screening, detection, treatment, and prevention of AD. The overarching structure of how PM for AD can be achieved will be provided through the convergence of breakthrough technological advances, including big data science, systems biology, genomic sequencing, blood-based biomarkers, integrated disease modeling and P4 medicine...
April 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28236616/nuclear-factor-kb-and-inhibitor-of-kb-acupuncture-protection-against-acute-focal-cerebral-ischemia-in-rodents
#20
Wei Huang, Zhongyu Zhou, Bijiang Wan, Guang Chen, Jia Li
Context • Acute, focal, cerebral ischemic stroke is a leading cause of morbidity and mortality worldwide. Acupuncture is an emerging alternative therapy for treatment of acute brain ischemia. Nevertheless, the precise mechanism underlying the neuroprotective effects of acupuncture has not been elucidated. Nuclear factor κB (NF-κB) and nuclear factor of κ light polypeptide gene enhancer in B cell inhibitor alpha (IκB-α) are involved in cerebral inflammation. However, the involvement of NF-κB and IκB-α in the protective effects of acupuncture on ischemic tolerance remains unknown...
May 2017: Alternative Therapies in Health and Medicine
keyword
keyword
108880
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"