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Precision medicine neurology

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https://www.readbyqxmd.com/read/28180072/the-diminishing-dominance-of-the-dominant-hemisphere-language-fmri-in-focal-epilepsy
#1
Chris Tailby, David F Abbott, Graeme D Jackson
"Which is the dominant hemisphere?" is a question that arises frequently in patients considered for neurosurgery. The concept of the dominant hemisphere implies uniformity of language lateralisation throughout the brain. It is increasingly recognised that this is not the case in the healthy control brain, and it is especially not so in neurological diseases such as epilepsy. In the present work we adapt our published objective lateralisation method (based on the construction of laterality curves) for use with sub-lobar cortical, subcortical and cerebellar regions of interest (ROIs)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28160876/neurology-individualized-medicine-when-to-use-next-generation-sequencing-panels
#2
REVIEW
Christopher J Klein, Tatiana M Foroud
Next-generation sequencing (NGS) is increasingly being applied to clinical testing. This practice is predicted to grow especially in neurology clinics because many of their patients have monogenetic causes for their "diagnostic odyssey." The cost of sequencing has been steadily decreasing, but the cost of DNA sequencing is a minor part of the total cost. Downstream data analysis, storage, and interpretation account for most of the total expense. In patients with nonspecific neurologic disorders in which an extensive number of genetic differential diagnoses exist, whole-genome sequencing (WGS) or whole-exome sequencing (WES) has shown promise in the identification of genetic causes...
February 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#3
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28053551/genetics-of-tuberous-sclerosis-complex-implications-for-clinical-practice
#4
REVIEW
Carolina Caban, Nubaira Khan, Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27919057/principles-of-precision-medicine-in-stroke
#5
REVIEW
Jason D Hinman, Natalia S Rost, Thomas W Leung, Joan Montaner, Keith W Muir, Scott Brown, Juan F Arenillas, Edward Feldmann, David S Liebeskind
The era of precision medicine has arrived and conveys tremendous potential, particularly for stroke neurology. The diagnosis of stroke, its underlying aetiology, theranostic strategies, recurrence risk and path to recovery are populated by a series of highly individualised questions. Moreover, the phenotypic complexity of a clinical diagnosis of stroke makes a simple genetic risk assessment only partially informative on an individual basis. The guiding principles of precision medicine in stroke underscore the need to identify, value, organise and analyse the multitude of variables obtained from each individual to generate a precise approach to optimise cerebrovascular health...
January 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27870452/sex-hormones-and-genotype-interact-to-influence-psychiatric-disease-treatment-and-behavioral-research
#6
REVIEW
Aarthi R Gobinath, Elena Choleris, Liisa A M Galea
Sex differences exist in the vulnerability, incidence, manifestation, and treatment of numerous neurological and psychiatric diseases. Despite this observation prominent in the literature, little consideration has been given to possible sex differences in outcome in both preclinical and clinical research. This Mini-Review highlights evidence supporting why studying sex differences matter for advances in brain health as well as improving treatment for neurological and psychiatric disease. Additionally, we discuss some statistical and methodological considerations in evaluating sex differences as well as how differences in the physiology of the sexes can contribute to sex difference in disease incidence and manifestation...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27814885/introducing-the-microbiome-into-precision-medicine
#7
REVIEW
Thomas M Kuntz, Jack A Gilbert
Understanding how individual people respond to medical therapy is a key facet of improving the odds ratio that interventions will have a positive impact. Reducing the non-responder rate for an intervention or reducing complications associated with a particular treatment or surgery is the next stage of medical advance. The Precision Medicine Initiative, launched in January 2015, set the stage for enhanced collaboration between researchers and medical professionals to develop next-generation techniques to aid patient treatment and recovery, and increased the opportunities for impactful pre-emptive care...
January 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/27786371/proper-performance-of-autonomic-function-testing
#8
(no author information available yet)
INTRODUCTION: The aim of this position statement is to provide a recommendation from experts at the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) on the proper performance of autonomic testing. METHODS: The AANEM Professional Practice Committee and selected AANEM members reached a consensus based on expert opinion on the training required to perform autonomic testing and the appropriate performance of such tests. RESULTS: Individuals without sufficient medical education in autonomic disorders are unqualified to interpret the data generated or to coordinate the findings with other clinical information in order to reach a clinical diagnosis...
January 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27786189/crispr-rna-guided-foki-nucleases-repair-a-pah-variant-in-a-phenylketonuria-model
#9
Yi Pan, Nan Shen, Sabine Jung-Klawitter, Christian Betzen, Georg F Hoffmann, Jörg D Hoheisel, Nenad Blau
The CRISPR/Cas9 system is a recently developed genome editing technique. In this study, we used a modified CRISPR system, which employs the fusion of inactive Cas9 (dCas9) and the FokI endonuclease (FokI-dCas9) to correct the most common variant (allele frequency 21.4%) in the phenylalanine hydroxylase (PAH) gene - c.1222C>T (p.Arg408Trp) - as an approach toward curing phenylketonuria (PKU). PKU is the most common inherited diseases in amino acid metabolism. It leads to severe neurological and neuropsychological symptoms if untreated or late diagnosed...
October 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27757059/neuropsychiatric-genomics-in-precision-medicine-diagnostics-gene-discovery-and-translation
#10
Anna C Need, David B Goldstein
Only a few years after its development, next-generation sequencing is rapidly becoming an essential part of clinical care for patients with serious neurological conditions, especially in the diagnosis of early-onset and severe presentations. Beyond this diagnostic role, there has been an explosion in definitive gene discovery in a range of neuropsychiatric diseases. This is providing new pointers to underlying disease biology and is beginning to outline a new framework for genetic stratification of neuropsychiatric disease, with clear relevance to both individual treatment optimization and clinical trial design...
September 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/27709241/-ambulatory-care-of-patients-with-somatically-unexplained-complaints-a%C3%A2-comparative-qualitative-study
#11
S Döpfmer, M C Münchmeyer, T Natschke, W Herrmann, F Holzinger, R Burian, A Berghöfer, C Heintze
BACKGROUND: The aim of this study was to compare the approach of general practitioners (GP) and outpatient specialists for psychiatry, neurology or psychosomatic medicine to patients with somatically unexplained complaints. METHODS: Qualitative interviews were conducted with general practitioners in Berlin and with outpatient specialists. Interviews were analyzed by qualitative content analysis. RESULTS: Both GPs and specialists rarely used structured diagnostic instruments...
October 5, 2016: Der Nervenarzt
https://www.readbyqxmd.com/read/27679539/-18-f-fluorodeoxyglucose-and-18-f-flumazenil-positron-emission-tomography-in-patients-with-refractory-epilepsy
#12
REVIEW
Marina Hodolic, Raffi Topakian, Robert Pichler
BACKGROUND: Epilepsy is a neurological disorder characterized by epileptic seizures as a result of excessive neuronal activity in the brain. Approximately 65 million people worldwide suffer from epilepsy; 20-40% of them are refractory to medication therapy. Early detection of disease is crucial in the management of patients with epilepsy. Correct localization of the ictal onset zone is associated with a better surgical outcome. The modern non-invasive techniques used for structural-functional localization of the seizure focus includes electroencephalography (EEG) monitoring, magnetic resonance imaging (MRI), single photon emission tomography/computed tomography (SPECT/CT) and positron emission tomography/computed tomography (PET/CT)...
September 1, 2016: Radiology and Oncology
https://www.readbyqxmd.com/read/27676278/the-confused-oncologic-patient-a-rational-clinical-approach
#13
Craig Nolan, Lisa M DeAngelis
PURPOSE OF REVIEW: The purpose of this review is to provide a practical clinical approach to confusion in the patient with cancer. Confusion in the cancer population has a broader differential diagnosis than in the general medical population. The clinician must consider the usual differential diagnoses as well as causes unique to the cancer patient including direct complications from the cancer and indirect complications related to cancer treatment. RECENT FINDINGS: In the recent age of precision medicine, the oncologist now utilizes the genomic profile of both the patient and the tumor to provide advanced biologic therapies including targeted anticancer drugs, antiangiogenic agents, and immunotherapy...
December 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27621486/predictive-performance-of-the-winter-tozer-and-derivative-equations-for-estimating-free-phenytoin-concentration
#14
Wendy Cheng, Tony K L Kiang, Penny Bring, Mary H H Ensom
BACKGROUND: The Winter-Tozer equation for estimating free phenytoin concentration is biased and imprecise. Alternative predictive equations are available, but most remain unvalidated. OBJECTIVES: To assess the bias and precision of the Winter-Tozer equation and selected derivative equations in predicting free phenytoin concentration and to derive new equations with better predictive performance. METHODS: A retrospective chart review (for patients with samples drawn for free phenytoin concentration between September 2008 and September 2013) was conducted for 3 subpopulations (critical care, general medicine, neurology) in one hospital...
July 2016: Canadian Journal of Hospital Pharmacy
https://www.readbyqxmd.com/read/27516652/a-review-of-possible-herbal-treatment-in-multiple-sclerosis-in-traditional-persian-medicine
#15
Rahil Ghanavati, Foroogh Namjoyan, Hosein Rezaee Zadeh
BACKGROUND: Multiple sclerosis (MS) is a chronic inflammatory disease of central nervous system (CNS) and is the most common cause of neurologic disability in young adults (20-40 years old). About 2.5 million patients all over the world are suffering from MS. Common symptoms of the disease include sensory disorders, optic neuritis, and limb weakness. Following disease progression, other symptoms like fatigue, bladder disorders, and cognitive impairment also occur. Traditional Persian medicine (TPM) is an ancient medical system from 6000 years ago in Persia, where Iran was its most important state...
May 2016: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27464676/updated-clinical-guidelines-for-diagnosing-fetal-alcohol-spectrum-disorders
#16
H Eugene Hoyme, Wendy O Kalberg, Amy J Elliott, Jason Blankenship, David Buckley, Anna-Susan Marais, Melanie A Manning, Luther K Robinson, Margaret P Adam, Omar Abdul-Rahman, Tamison Jewett, Claire D Coles, Christina Chambers, Kenneth L Jones, Colleen M Adnams, Prachi E Shah, Edward P Riley, Michael E Charness, Kenneth R Warren, Philip A May
The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine categories, allowing for standardization of FASD diagnoses in clinical settings. The purpose of the current report is to present updated diagnostic guidelines based on a thorough review of the literature and the authors' combined expertise based on the evaluation of >10 000 children for potential FASD in clinical settings and in epidemiologic studies in conjunction with National Institute on Alcohol Abuse and Alcoholism-funded studies, the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, and the Collaboration on FASD Prevalence...
August 2016: Pediatrics
https://www.readbyqxmd.com/read/27463091/general-overview-conclusions-and-future-directions
#17
REVIEW
Ettore Beghi, Giancarlo Logroscino
BACKGROUND: The traditional design of the randomized clinical trial (RCT) is challenged by the peculiarities of the genotype and phenotype of neurological disorders. SUMMARY: RCTs are intended to verify the net effect of an investigational treatment on the outcome of a disease. This implies the inclusion of strictly homogeneous sample of patients that represent only in part the full disease spectrum. For this reason, pragmatic trials on representative samples of the general population are welcome...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27399529/331%C3%A2-association-between-radiation-necrosis-and-tumor-biology-following-stereotactic-radiosurgery-for-brain-metastasis
#18
Jacob A Miller, Elizabeth Emily Bennett, Roy Xiao, Rupesh Kotecha, Samuel T Chao, Michael A Vogelbaum, Gene H Barnett, Lilyana Angelov, Erin Murphy, Jennifer Yu, Manmeet Ahluwalia, John H Suh, Alireza M Mohammadi
INTRODUCTION: Over the past decade, there has been tremendous interest in biological risk stratification and precision medicine. The chief dose-limiting toxicity of stereotactic radiosurgery (SRS) is radiation necrosis (RN), which occurs following approximately 5% to 10% of treatments. This complication may worsen neurological deficits, increase the frequency and cost of imaging, and necessitate prolonged treatment with steroids or antiangiogenic agents. We hypothesized that tumor biology is associated with RN, and that biological risk stratification may be used to guide dose escalation and dose reduction...
August 2016: Neurosurgery
https://www.readbyqxmd.com/read/27378853/the-revolution-in-migraine-genetics-from-aching-channels-disorders-to-a-next-generation-medicine
#19
REVIEW
Simona Pellacani, Federico Sicca, Cherubino Di Lorenzo, Gaetano S Grieco, Giulia Valvo, Cristina Cereda, Anna Rubegni, Filippo M Santorelli
Channelopathies are a heterogeneous group of neurological disorders resulting from dysfunction of ion channels located in cell membranes and organelles. The clinical scenario is broad and symptoms such as generalized epilepsy (with or without fever), migraine (with or without aura), episodic ataxia and periodic muscle paralysis are some of the best known consequences of gain- or loss-of-function mutations in ion channels. We review the main clinical effects of ion channel mutations associated with a significant impact on migraine headache...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27215627/spreading-depression-in-primary-and-secondary-headache-disorders
#20
REVIEW
Shih-Pin Chen, Cenk Ayata
PURPOSE OF REVIEW: Spreading depression (SD) is a wave of simultaneous and near-complete depolarization of virtually all cells in brain tissue associated with a transient "depression" of all spontaneous or evoked electrical activity in the brain. SD is widely accepted as the pathophysiological event underlying migraine aura and may play a role in headache pathogenesis in secondary headache disorders such as ischemic stroke, subarachnoid or intracerebral hemorrhage, traumatic brain injury, and epilepsy...
July 2016: Current Pain and Headache Reports
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