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https://www.readbyqxmd.com/read/29025426/the-complete-european-guidelines-on-phenylketonuria-diagnosis-and-treatment
#1
REVIEW
A M J van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, A M Bosch, A Burlina, J Campistol, F Feillet, M Giżewska, S C Huijbregts, S Kearney, V Leuzzi, F Maillot, A C Muntau, M van Rijn, F Trefz, J H Walter, F J van Spronsen
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method...
October 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29024165/clinical-yield-of-magnetoencephalography-distributed-source-imaging-in-epilepsy-a-comparison-with-equivalent-current-dipole-method
#2
Giovanni Pellegrino, Tanguy Hedrich, Rasheda Arman Chowdhury, Jeffery A Hall, Francois Dubeau, Jean-Marc Lina, Eliane Kobayashi, Christophe Grova
OBJECTIVE: Source localization of interictal epileptic discharges (IEDs) is clinically useful in the presurgical workup of epilepsy patients. It is usually obtained by equivalent current dipole (ECD) which localizes a point source and is the only inverse solution approved by clinical guidelines. In contrast, magnetic source imaging using distributed methods (dMSI) provides maps of the location and the extent of the generators, but its yield has not been clinically validated. We systematically compared ECD versus dMSI performed using coherent Maximum Entropy on the Mean (cMEM), a method sensitive to the spatial extent of the generators...
October 11, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29020944/a-convenient-uhplc-ms-ms-method-for-routine-monitoring-of-plasma-and-brain-levels-of-nicotine-and-cotinine-as-a-tool-to-validate-newly-developed-preclinical-smoking-model-in-mouse
#3
Mohammad A Kaisar, Raja Reddy Kallem, Ravi K Sajja, Ali Ehsan Sifat, Luca Cucullo
BACKGROUND: A sensitive, rapid and selective UHPLC-MS/MS method has been developed and validated for the quantification of Nicotine (NT) and Cotinine (CN) using Continine-d 3 as internal standard (IS) as per FDA guidelines. Sample preparation involved simple protein precipitation of 20 µL mouse plasma or brain homogenate using acetonitrile at 1:8 ratio. Mass Spectrometer was operated in positive polarity under the multiple reaction-monitoring mode using electro spray ionization technique and the transitions of m/z 163...
October 11, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/29017157/impact-of-the-number-of-metastatic-tumors-treated-by-stereotactic-radiosurgery-on-the-dose-to-normal-brain-implications-for-brain-protection
#4
Charlotte Rivers, Marissa Tranquilli, Shefalika Prasad, Evan Winograd, Robert J Plunkett, Robert A Fenstermaker, Andrew J Fabiano, Matthew B Podgorsak, Dheerendra Prasad
PURPOSE/OBJECTIVES: The purpose of this study was to evaluate the effect of the number of brain lesions for which stereotactic radiosurgery (SRS) was performed on the dose volume relationships in normal brain. MATERIALS AND METHODS: Brain tissue was segmented using the patient's pre-SRS MRI. For each plan, the following data points were recorded: total brain volume, number of lesions treated, volume of brain receiving 8 Gy (V8), V10, V12, and V15. RESULTS: A total of 225 Gamma Knife® treatments were included in this retrospective analysis...
October 11, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/29017156/the-missing-link-in-the-pathophysiology-of-vascular-cognitive-impairment-design-of-the-heart-brain-study
#5
Astrid M Hooghiemstra, Anne Suzanne Bertens, Anna E Leeuwis, Esther E Bron, Michiel L Bots, Hans-Peter Brunner-La Rocca, Anton J M de Craen, Rob J van der Geest, Jacoba P Greving, L Jaap Kappelle, Wiro J Niessen, Robert J van Oostenbrugge, Matthias J P van Osch, Albert de Roos, Albert C van Rossum, Geert Jan Biessels, Mark A van Buchem, Mat J A P Daemen, Wiesje M van der Flier
BACKGROUND: Hemodynamic balance in the heart-brain axis is increasingly recognized as a crucial factor in maintaining functional and structural integrity of the brain and thereby cognitive functioning. Patients with heart failure (HF), carotid occlusive disease (COD), and vascular cognitive impairment (VCI) present themselves with complaints attributed to specific parts of the heart-brain axis, but hemodynamic changes often go beyond the part of the axis for which they primarily seek medical advice...
October 10, 2017: Cerebrovascular Diseases Extra
https://www.readbyqxmd.com/read/29016871/cost-effectiveness-of-idh-testing-in-diffuse-gliomas-according-to-the-2016-who-classification-of-tumors-of-the-central-nervous-system-recommendations
#6
John C DeWitt, Justin T Jordan, Matthew P Frosch, Wesley R Samore, A John Iafrate, David N Louis, Jochen K Lennerz
Background: Due to the decreasing prevalence of IDH1 mutations in older patients, the 2016 World Health Organization (WHO) classification of brain tumors proposed not to perform sequencing for isocitrate dehydrogenase (IDH) in glioblastoma patients ≥55 years old. We present a cost-effectiveness analysis to estimate the financial impact of these guidelines. Methods: From 2010 to 2015 we performed 1023 IDH tests in gliomas, amounting to ~$1.09 million in direct laboratory test costs...
June 28, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29016557/future-perspectives-of-cell-therapy-for-neonatal-hypoxic-ischemic-encephalopathy
#7
REVIEW
Makoto Nabetani, Haruo Shintaku, Takashi Hamazaki
Neonatal ischemic brain injury causes permanent motor-deficit cerebral palsy. Hypoxic-ischemic encephalopathy (HIE) is a very serious condition that can result in death and disability. In 1997, we reported that irreversible neuronal cell damage is induced by the elevation of intracellular Ca ion concentration that has occurred in sequence after excess accumulation of the excitatory neurotransmitter glutamate during ischemia. We also reported that hypothermia was effective in treating ischemic brain damage in rats by suppressing energy loss and raising intracellular Ca ion concentration...
October 10, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28994492/quality-of-clinical-brain-tumor-mr-spectra-judged-by-humans-and-machine-learning-tools
#8
Sreenath P Kyathanahally, Victor Mocioiu, Nuno Pedrosa de Barros, Johannes Slotboom, Alan J Wright, Margarida Julià-Sapé, Carles Arús, Roland Kreis
PURPOSE: To investigate and compare human judgment and machine learning tools for quality assessment of clinical MR spectra of brain tumors. METHODS: A very large set of 2574 single voxel spectra with short and long echo time from the eTUMOUR and INTERPRET databases were used for this analysis. Original human quality ratings from these studies as well as new human guidelines were used to train different machine learning algorithms for automatic quality control (AQC) based on various feature extraction methods and classification tools...
October 10, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28991814/management-of-traumatic-brain-injury-in-the-emergency-department-guideline-adherence-and-patient-safety
#9
Tomas Vedin, Marcus Edelhamre, Mathias Karlsson, Michael Bergenheim, Per-Anders Larsson
BACKGROUND: Traumatic brain injury is a common reason not only for emergency visits worldwide but also for significant morbidity and mortality. Several clinical guidelines exist but adherence is generally low. AIM: To study attitudes toward computed tomography of the head among emergency department Change to physicians throughout the article who manage patients with trauma to the head and doctors' adherence to guidelines. METHODS: Quantitative questionnaire study with questionnaires collected over 3 months before introduction of new guidelines...
October 2017: Quality Management in Health Care
https://www.readbyqxmd.com/read/28991694/dilemmas-in-the-diagnosis-and-treatment-of-intracranial-tuberculomas
#10
REVIEW
Rajeswari Ramachandran, M Muniyandi, Vijay Iyer, T Sripriya, B Priya, T G Govindarajan
Tuberculosis (TB) remains a major public health problem across the globe. A common form of extrapulmonary TB (EPTB) with high mortality and morbidity is neuro TB or tuberculosis of the nervous system. The management of brain TB remains a big challenge due to the lack of specific diagnostic tools and appropriate treatment guidelines. In this context, this manuscript discusses clinical, diagnostic and treatment dilemmas in the management of intracranial tuberculomas. Brain tuberculoma may occur at any site within the cranium, no part of the brain substance or ventricular surface being exempt...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28985560/ferroptosis-a-regulated-cell-death-nexus-linking-metabolism-redox-biology-and-disease
#11
REVIEW
Brent R Stockwell, José Pedro Friedmann Angeli, Hülya Bayir, Ashley I Bush, Marcus Conrad, Scott J Dixon, Simone Fulda, Sergio Gascón, Stavroula K Hatzios, Valerian E Kagan, Kay Noel, Xuejun Jiang, Andreas Linkermann, Maureen E Murphy, Michael Overholtzer, Atsushi Oyagi, Gabriela C Pagnussat, Jason Park, Qitao Ran, Craig S Rosenfeld, Konstantin Salnikow, Daolin Tang, Frank M Torti, Suzy V Torti, Shinya Toyokuni, K A Woerpel, Donna D Zhang
Ferroptosis is a form of regulated cell death characterized by the iron-dependent accumulation of lipid hydroperoxides to lethal levels. Emerging evidence suggests that ferroptosis represents an ancient vulnerability caused by the incorporation of polyunsaturated fatty acids into cellular membranes, and cells have developed complex systems that exploit and defend against this vulnerability in different contexts. The sensitivity to ferroptosis is tightly linked to numerous biological processes, including amino acid, iron, and polyunsaturated fatty acid metabolism, and the biosynthesis of glutathione, phospholipids, NADPH, and coenzyme Q10...
October 5, 2017: Cell
https://www.readbyqxmd.com/read/28983881/alzheimer-s-disease-and-driving-review-of-the-literature-and-consensus-guideline-from-belgian-dementia-experts-and-the-belgian-road-safety-institute-endorsed-by-the-belgian-medical-association
#12
Jan Versijpt, Mark Tant, Ingo Beyer, Jean-Christophe Bier, Patrick Cras, Peter P De Deyn, Patrick De Wit, Olivier Deryck, Bernard Hanseeuw, Margareta Lambert, Jean-Claude Lemper, Eric Mormont, Mirko Petrovic, Gaetane Picard, Eric Salmon, Kurt Segers, Anne Sieben, Evert Thiery, Jos Tournoy, Maurits Vandewoude, Manfredi Ventura, Jurn Verschraegen, Sebastiaan Engelborghs, Tom Goffin, Michel Deneyer, Adrian Ivanoiu
Alzheimer's disease (AD) is a highly prevalent condition and its prevalence is expected to further increase due to the aging of the general population. It is obvious that the diagnosis of AD has implications for driving. Finally, driving discussions are also emotionally charged because driving is associated with independence and personal identity. However, it is not clear how to implement this in clinical practice and the Belgian law on driving is rather vague in its referral to neurodegenerative brain diseases in general nor does it provide clear-cut instructions for dementia or AD compared to for example driving for patients with epilepsy and as such does not prove to be very helpful...
October 5, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28983444/vibrotactile-coordinated-reset-stimulation-for-the-treatment-of-neurological-diseases-concepts-and-device-specifications
#13
Peter A Tass
Coordinated reset stimulation (CRS) consists of spatiotemporal sequences of stimuli delivered to different sites in the brain. Computationally, it was shown that by achieving an unlearning of abnormal synaptic connectivity, CRS can cause a long-lasting reduction of pathological synchronization, a hallmark feature of Parkinson's disease and other brain disorders. Pre-clinical and proof of concept clinical studies in parkinsonian monkeys and patients showed that CRS applied through deep brain stimulation electrodes implanted in the subthalamic nucleus resulted in cumulative and long-lasting therapeutic effects along with a reduction of beta band oscillations...
August 2, 2017: Curēus
https://www.readbyqxmd.com/read/28983441/high-value-care-in-the-evaluation-of-stroke
#14
Prakrity Urja, Eric H Nippoldt, Virginia Barak, Carrie Valenta
Value-based care emphasizes achieving the greatest overall health benefit for every dollar spent. We present an interesting case of stroke, which made us consider how frequently health care providers are utilizing value-based care. A 73-year-old Caucasian, who was initially admitted for a hypertensive emergency, was transferred to our facility for worsening slurring of speech and left-sided weakness. The patient had an extensive chronic cerebrovascular disease, including multiple embolic type strokes, mainly in the distribution of the right temporal-occipital cerebral artery and transient ischemic attacks (TIAs)...
August 1, 2017: Curēus
https://www.readbyqxmd.com/read/28983423/management-of-elevated-therapeutic-impedances-on-deep-brain-stimulation-leads
#15
Wissam Deeb, Amar Patel, Michael S Okun, Aysegul Gunduz
CLINICAL VIGNETTE: A 64-year-old male with a history of essential tremor with bilateral thalamic ventralis intermedius deep brain stimulation implants had elevated therapeutic impedance values despite normal lead integrity impedances and good response to stimulation. CLINICAL DILEMMA: Do elevated therapeutic impedance values indicate a sign of hardware malfunction? What are the guidelines to approach deep brain stimulation hardware malfunction? CLINICAL SOLUTION: Lead integrity impedance values are a better evaluation of hardware integrity...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28982970/cold-block-of-in-vitro-eyeblink-reflexes-evidence-supporting-the-use-of-hypothermia-as-an-anesthetic-in-pond-turtles
#16
Joyce Keifer, Zhaoqing Zheng
Use of hypothermia as a means of anesthesia for amphibians and reptiles is prohibited by agencies that establish veterinary guidelines. This has recently been called into question by members of the scientific community based on reviews of published literature. Using pond turtles (Trachemys scripta elegans), hypothermia as a method for anesthesia to precede euthanasia by decapitation was assessed. Turtles were subjected to hypothermia using a cooling followed by freezing protocol. Body temperature measurements ranged between -1 to -2°C while core body temperature was -1°C...
October 5, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28981348/traumatic-brain-injury-clinical-practice-guidelines-and-best-practices-from-the-va-state-of-the-art-conference
#17
Joel Scholten, Jennifer J Vasterling, Jamie B Grimes
Management of symptoms following traumatic brain injury (TBI) can be complex and remains a high priority for Department of Defense (DoD) and Department of Veteran Affairs (VA). Concurrently, awareness of TBI in the public has increased. VA convened a State of the Art (SOTA) Conference to identify priorities for future research and promote best practices for TBI care. Scientific evidence of effective management of symptoms following TBI is expanding, and this evidence has been synthesized into Clinical Practice Guidelines (CPGs) and Clinical Practice Recommendations (CPRs)...
2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28980391/the-duration-of-asystolic-ischemia-time-determines-the-risk-of-graft-failure-after-circulatory-dead-donor-kidney-transplantation-a-eurotransplant-cohort-study
#18
L Heylen, I Jochmans, U Samuel, I Tieken, M Naesens, J Pirenne, B Sprangers
Circulatory death donor (DCD) kidney transplantations are steadily increasing. Consensus reports recommend to limit donor warm ischemia time (DWIT) in DCD donation, although an independent effect on graft outcome has not been demonstrated. We investigated death-censored graft survival in 18,065 recipients of deceased-donor kidney transplants in the Eurotransplant region: 1,059 DCD and 17,006 brain-dead donor (DBD) kidney recipients. DWIT was defined as time from circulatory arrest until cold flush. DCD donation was an independent risk factor for graft failure (adjusted HR 1...
October 5, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28980020/-digital-electroencephalography-in-brain-death-diagnostics-technical-requirements-and-results-of-a%C3%A2-survey-on-the-compatibility-with-medical-guidelines-of-digital-eeg-systems-from-providers-in-germany
#19
U Walter, S Noachtar, H Hinrichs
BACKGROUND: The guidelines of the German Medical Association and the German Society for Clinical Neurophysiology and Functional Imaging (DGKN) require a high procedural and technical standard for electroencephalography (EEG) as an ancillary method for diagnosing the irreversible cessation of brain function (brain death). Nowadays, digital EEG systems are increasingly being applied in hospitals. So far it is unclear to what extent the digital EEG systems currently marketed in Germany meet the guidelines for diagnosing brain death...
October 4, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28979158/the-central-sensitization-inventory-validated-and-adapted-for-a-brazilian-population-psychometric-properties-and-its-relationship-with-brain-derived-neurotrophic-factor
#20
Wolnei Caumo, Luciana C Antunes, Jéssica Lorenzzi Elkfury, Evelyn G Herbstrith, Raquel Busanello Sipmann, Andressa Souza, Iraci Ls Torres, Vinicius Souza Dos Santos, Randy Neblett
OBJECTIVES: The primary aim was to assess the psychometric properties (including internal consistency, construct validity, reproducibility, and factor structure) of the Central Sensitization Inventory (CSI), adapted and validated for a Brazilian population (CSI-BP). Additionally, we evaluated the relationship between the CSI-BP and the serum brain-derived neurotrophic factor (BDNF) and determined if the symptoms elicited by the CSI-BP discriminate between subjects who do/do not respond to the conditioned pain modulation (CPM) task, as assessed by change in numeric pain scale (0-10) score...
2017: Journal of Pain Research
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