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Precision medicine neurology

Georgios Schoretsanitis, Michael Paulzen, Stefan Unterecker, Markus Schwarz, Andreas Conca, Gerald Zernig, Gerhard Gründer, Ekkerhard Haen, Pierre Baumann, Niels Bergemann, Hans Willi Clement, Katharina Domschke, Gabriel Eckermann, Karin Egberts, Manfred Gerlach, Christine Greiner, Ursula Havemann-Reinecke, Gudrun Hefner, Renate Helmer, Ger Janssen, Eveline Jaquenoud-Sirot, Gerd Laux, Thomas Messer, Rainald Mössner, Matthias J Müller, Bruno Pfuhlmann, Peter Riederer, Alois Saria, Bernd Schoppek, Margarete Silva Gracia, Benedikt Stegmann, Werner Steimer, Julia C Stingl, Manfred Uhr, Sven Ulrich, Roland Waschgler, Gabriela Zurek, Christoph Hiemke
OBJECTIVES: Therapeutic drug monitoring (TDM) combines the quantification of drug concentrations in blood, pharmacological interpretation and treatment guidance. TDM introduces a precision medicine tool in times of increasing awareness of the need for personalized treatment. In neurology and psychiatry, TDM can guide pharmacotherapy for patient subgroups such as children, adolescents, pregnant women, elderly patients, patients with intellectual disabilities, patients with substance use disorders, individuals with pharmacokinetic peculiarities and forensic patients...
March 1, 2018: World Journal of Biological Psychiatry
Bing-Xin Xiao, Jie Dong, Mingzhu Yan, Yun Liu, Yanli Li, Guangsheng Yang, Zengxian Sun
Pueraria lobata is a medicinal plant widely used in traditional Chinese medicine. The total pueraria isoflavones have been demonstrated positive effect against neurological disorders. In present study, we firstly develop an ultra high performance liquid chromatography and tandem mass spectrometry method to quantify the multiple active pueraria isoflavonoids and neuro-chemical markers in brain dialysate to provide tools for further exploring the functional mechanism of pueraria isoflavones for neuro-activities...
February 27, 2018: Journal of Separation Science
Xiaochuan Dai, Guosong Hong, Teng Gao, Charles M Lieber
Nanobioelectronics represents a rapidly developing field with broad-ranging opportunities in fundamental biological sciences, biotechnology, and medicine. Despite this potential, seamless integration of electronics has been difficult due to fundamental mismatches, including size and mechanical properties, between the elements of the electronic and living biological systems. In this Account, we discuss the concept, development, key demonstrations, and future opportunities of mesh nanoelectronics as a general paradigm for seamless integration of electronics within synthetic tissues and live animals...
January 30, 2018: Accounts of Chemical Research
Qinming Zhou, Youjie Wang, Jingjing Zhang, Yaping Shao, Song Li, Yuan Wang, Huaibin Cai, Yi Feng, Weidong Le
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease characterized by progressive loss of motor neurons. There are no definitive pathogenic mechanisms and effective treatments for ALS now. Traditional Chinese medicine (TCM) plays an important role in Chinese health care system. Huolingshengji Formula (HLSJ) is a TCM formula which is applied for treating flaccid syndrome. Our previous clinical study has indicated that HLSJ may have therapeutic effects in ALS patients. In the present study, we analyzed the chemical profile of HLSJ by the high-performance liquid chromatographic (HPLC) fingerprint analysis...
January 26, 2018: Scientific Reports
Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N Cooper, Yanmin Luo, Qun Fang, Jian-Min Chen
BACKGROUND: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene, in a Chinese family where two successive foetuses had been affected by severe microcephaly, is a case in point. These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities; however, the paucity of other characteristic phenotypic features had made a precise diagnosis impossible...
January 25, 2018: Human Genomics
Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H-Werner Mewes, Matthias Arnold, Andreas Ruepp
BACKGROUND: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity for the interpretation of inherited diseases. We have therefore developed PhenoDis, a comprehensive, manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases...
January 25, 2018: Orphanet Journal of Rare Diseases
Tanya Bardakjian, Pedro Gonzalez-Alegre
The concept of precision medicine, also referred to as individualized or personalized medicine, has recently gained traction in scientific, medical, and public spheres, and is frequently mentioned as the next model of healthcare delivery. Its goal is to integrate unique information obtained from a given patient to customize the care provided to achieve the best possible outcome. Although precision medicine is not fully implemented yet, its application is slowly infiltrating clinical practice, and the dream of individualizing healthcare to each patient is now closer to being fulfilled...
2018: Handbook of Clinical Neurology
Brent L Fogel
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of genetic origin. In the search for mutations causing Mendelian disorders, advances in genetic testing methodology have propelled modern neurologic practice beyond single-gene testing into the realm of genomic medicine, where routine evaluations encompass hundreds or thousands of genes, or even the entire exome, representing all protein-coding genes in the genome...
2018: Handbook of Clinical Neurology
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...
2017: Journal of Neuromuscular Diseases
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
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...
November 2017: Annals of Neurology
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
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.)
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
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
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
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
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
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
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
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