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https://www.readbyqxmd.com/read/28318010/ataxia-telangiectasia-recommendations-for-multidisciplinary-treatment
#1
REVIEW
Nienke J H van Os, Charlotte A Haaxma, Michiel van der Flier, Peter J F M Merkus, Marcel van Deuren, Imelda J M de Groot, Jan Loeffen, Bart P C van de Warrenburg, Michèl A A P Willemsen
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition...
March 20, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28286989/a-precision-medicine-initiative-for-alzheimer-s-disease-the-road-ahead-to-biomarker-guided-integrative-disease-modeling
#2
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/28285700/autoimmune-paraneoplastic-syndromes-associated-to-lung-cancer-a-systematic-review-of-the-literature-part-3-neurological-paraneoplastic-syndromes-involving-the-central-nervous-system
#3
REVIEW
Georgiana Bentea, Claudine Sculier, Bogdan Grigoriu, Anne-Pascale Meert, Valérie Durieux, Thierry Berghmans, Jean-Paul Sculier
The development of new immune treatment in oncology and particularly for lung cancer may induce new complications, particularly activation or reactivation of auto-immune diseases. In this context, a systematic review on the auto-immune paraneoplastic syndromes that can complicate lung cancer appears useful. This article is the third of a series of five and deals mainly with neurological paraneoplastic syndromes involving the central nervous system.
April 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28284844/investigating-methotrexate-toxicity-within-a-randomized-double-blinded-placebo-controlled-trial-rationale-and-design-of-the-cardiovascular-inflammation-reduction-trial-adverse-events-cirt-ae-study
#4
Jeffrey A Sparks, Medha Barbhaiya, Elizabeth W Karlson, Susan Y Ritter, Soumya Raychaudhuri, Cassandra C Corrigan, Fengxin Lu, Jacob Selhub, Daniel I Chasman, Nina P Paynter, Paul M Ridker, Daniel H Solomon
BACKGROUND: The role of low dose methotrexate (LDM) in potential serious toxicities remains unclear despite its common use. Prior observational studies investigating LDM toxicity compared LDM to other active drugs. Prior placebo-controlled clinical trials of LDM in inflammatory conditions were not large enough to investigate toxicity. The Cardiovascular Inflammation Reduction Trial (CIRT) is an ongoing NIH-funded, randomized, double-blind, placebo-controlled trial of LDM in the secondary prevention of cardiovascular disease...
February 10, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28270021/tropomyosin-receptor-kinase-inhibitors-an-updated-patent-review-for-2010-2016-part-ii
#5
Justin J Bailey, Ralf Schirrmacher, Kristen Farrell, Vadim Bernard-Gauthier
TrkA/B/C receptor activation supports growth, survival, and differentiation of discrete neuronal populations during development, adult life, and ageing but also plays numerous roles in human disease onset and progression. Trk-specific inhibitors have therapeutic applications in cancer and pain and thus constitute a growing area of interest in oncology and neurology. There has been substantial growth in the number of structural classes of Trk inhibitors and the number of industrial entrants to the Trk inhibitor field over the past six years...
March 8, 2017: Expert Opinion on Therapeutic Patents
https://www.readbyqxmd.com/read/28265036/preclinical-models-in-the-study-of-sex-differences
#6
REVIEW
Maria Buoncervello, Matteo Marconi, Alessandra Carè, Paola Piscopo, Walter Malorni, Paola Matarrese
The biology of sex differences deals with the study of the disparities between females and males and the related biological mechanisms. Gender medicine focuses on the impact of gender and sex on human physiology, pathophysiology and clinical features of diseases that are common to women and men. The term gender refers to a complex interrelation and integration of sex-as a biological and functional determinant-and psychological and cultural behaviours (due to ethnical, social or religious background). The attention to the impact of gender differences on the pathophysiology and, therefore, on the clinical management of the most common diseases, such as cardiovascular diseases (CVD), neurodegenerative disorders, immune and autoimmune diseases as well as several tumours, is in fact often neglected...
March 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28264138/structure-based-design-and-synthesis-of-harmine-derivatives-with-different-selectivity-profiles-in-kinase-vs-monoamine-oxidase-inhibition
#7
Balazs Balint, Csaba Weber, Francisco Cruzalegui, Mike Burbridge, Andras Kotschy
DYRK1A is an emerging biological target with implications in diverse therapeutic areas such as neurological disorders (Down syndrome in particular), metabolism, and oncology. Harmine, a natural product that selectively inhibits DYRK1A amongst kinases could serve as a tool compound to better understand the biological processes that arise from DYRK1A inhibition. On the other hand harmine is also a potent inhibitor of monoamine oxidase A (MAO-A). Using structure-based design we have synthesized a collection of harmine analogs with tunable selectivity towards these two enzymes...
March 6, 2017: ChemMedChem
https://www.readbyqxmd.com/read/28257280/applying-the-international-classification-of-functioning-children-and-youth-version-to-pediatric-neuro-oncology
#8
Thomas Pletschko, Anna Felnhofer, Agathe Schwarzinger, Liesa Weiler, Irene Slavc, Ulrike Leiss
Given the increased survival rates in patients with pediatric central nervous system tumors, late effects such as treatment- and/or illness-related neurologic sequelae as well as neuropsychological deficits and social difficulties have moved into focus in follow-up care. In order to provide personalized treatment recommendations for pediatric brain tumor survivors, it is crucial not only to assess cognitive impairments but also to measure a patient's functional deficiencies, for example, restricted participation in everyday social activities...
January 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28256369/anti-hu-paraneoplastic-brainstem-encephalitis-caused-by-a-pancreatic-neuroendocrine-tumor-presenting-with-central-hypoventilation
#9
Marc Najjar, Andrew Taylor, Surbhi Agrawal, Tito Fojo, Alexander E Merkler, Marc K Rosenblum, Laura Lennihan, Michael D Kluger
Paraneoplastic neurological syndromes are rare autoimmune manifestations of malignancies associated with specific antibodies. Anti-Hu associated brainstem encephalitis, a well-described syndrome, usually presents subacutely with preferential involvement of the medulla. Anti-Hu antibodies target intraneuronal antigens and are therefore highly correlated with neurological syndromes when present concomitantly with a neoplasm. Reported is a case of anti-Hu brainstem encephalitis associated with a pancreatic neuroendocrine tumor (PNET) presenting with central hypoventilation...
February 27, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28253468/variation-in-outpatient-consultant-physician-fees-in-australia-by-specialty-and-state-and-territory
#10
Gary L Freed, Amy R Allen
OBJECTIVES: To determine the mean, median and 10th and 90th percentile levels of fees and out-of-pocket costs to the patient for an initial consultation with a consultant physician; to determine any differences in fees and bulk-billing rates between specialties and between states and territories. DESIGN, PARTICIPANTS AND SETTING: Analysis of 2015 Medicare claims data for an initial outpatient appointment with a consultant physician (Item 110) in 11 medical specialties representative of common adult non-surgical medical care (cardiology, endocrinology, gastroenterology, geriatric medicine, haematology, immunology/allergy, medical oncology, nephrology, neurology, respiratory medicine and rheumatology)...
March 6, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28245506/should-posterior-reversible-encephalopathy-syndrome-be-mainly-considered-an-epileptic-disorder-results-of-a-sequential-neurophysiological-study-in-a-pediatric-cohort
#11
Daniele Grioni, Fabio Pavan, Giulia Prunotto, Francesco Canonico, Carlo de Grandi, Attilio Rovelli
Despite a wide number of studies trying to define clinical, physiopathological, and neuroradiological features of posterior reversible encephalopathy syndrome (PRES), the true nature of symptoms is still not fully understood. We studied a standard cohort of 24 pediatric patients, affected by hemato-oncological diseases, with a neuroradiological diagnosis consistent with PRES identified from 2006 to 2013. Ten of them developed PRES after hematopoietic stem cell transplantation. We analyzed the sequence of clinical, radiological, and electrophysiological data...
February 28, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28237000/dose-estimation-in-pediatric-nuclear-medicine
#12
REVIEW
Frederic H Fahey, Alison B Goodkind, Donika Plyku, Kitiwat Khamwan, Shannon E O'Reilly, Xinhua Cao, Eric C Frey, Ye Li, Wesley E Bolch, George Sgouros, S Ted Treves
The practice of nuclear medicine in children is well established for imaging practically all physiologic systems but particularly in the fields of oncology, neurology, urology, and orthopedics. Pediatric nuclear medicine yields images of physiologic and molecular processes that can provide essential diagnostic information to the clinician. However, nuclear medicine involves the administration of radiopharmaceuticals that expose the patient to ionizing radiation and children are thought to be at a higher risk for adverse effects from radiation exposure than adults...
March 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28205254/manganese-and-selenium-concentrations-in-cerebrospinal-fluid-of-seriously-ill-children
#13
Tomáš Franěk, Karel Kotaška, Richard Průša
BACKGROUND: The homeostasis of essential trace elements such as selenium and manganese may be altered in patients with severe diseases of various etiologies (trauma brain injuries, tumors, leukemias, lymphomas, neurological diseases). METHODS: Concentration of manganese and selenium were determined in cerebrospinal fluid by electrothermal atomic absorption spectrometry in 50 hospitalized children with various clinical ethiologies including oncological, neurological, and brain related diseases...
February 15, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28195061/overview-of-the-preclinical-pharmacological-properties-of-nigella-sativa-black-seeds-a-complementary-drug-with-historical-and-clinical-significance
#14
E Z Dajani, T G Shahwan, N E Dajani
Nigella sativa (N. sativa, black seeds; or sometimes known by many other names such as the blessed seed by the Arabs, black cumin in the Holy Bible, black caraway and Kalonji in South Asia) has been traditionally used for many years not only as a food but also as complementary drug. It is the objective of this communication to review the evidence-based pre-clinical pharmacological actions of N. sativa as a basis of its existing and potential new human clinical uses. Primary PubMed literature searches and secondary Medline searches were conducted to define N...
December 2016: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28190444/management-of-neuro-oncologic-emergencies
#15
J T Jo, D Schiff
Patients with brain tumors and systemic malignancies are subject to diverse neurologic complications that require urgent evaluation and treatment. These neurologic conditions are commonly due to the tumor's direct effects on the nervous system, such as cerebral edema, increased intracranial pressure, seizures, spinal cord compression, and leptomeningeal metastases. In addition, neurologic complications can develop as a result of thrombocytopenia, coagulopathy, hyperviscosity syndromes, infection, immune-related disorders, and adverse effects of treatment...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28161013/functional-and-oncological-outcomes-following-awake-surgical-resection-using-intraoperative-cortico-subcortical-functional-mapping-for-supratentorial-gliomas-located-in-eloquent-areas
#16
J Pallud, E Dezamis
OBJECTIVE: Glioma survival correlated with the extent of resection and the functional status of the patient. We detailed functional results along with oncological results after a functional-based resection of gliomas located within eloquent regions. MATERIAL AND METHODS: Single centre prospective series of adult patients with gliomas located within eloquent regions, treated with maximal resection according to functional boundaries using intraoperative cortico-subcortical monitoring under awake conditions, with available functional outcomes (language and cognitive assessments, neurological status, ability to work) and oncological outcomes (extent of surgical resection, survivals)...
February 1, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28161011/surgical-resection-of-incidental-diffuse-gliomas-involving-eloquent-brain-areas-rationale-functional-epileptological-and-oncological-outcomes
#17
G L O Lima, E Dezamis, R Corns, O Rigaux-Viode, S Moritz-Gasser, A Roux, H Duffau, J Pallud
OBJECTIVE: Incidentally discovered diffuse low-grade gliomas progress in a fashion similar to their symptomatic counterparts. Their early detection allows more effective pre-emptive and individualized oncological treatment. We assessed the safety and efficacy of maximal safe resection according to functional boundaries for incidental diffuse low-grade gliomas in eloquent areas. MATERIAL AND METHODS: Two-centre retrospective series of adult patients with incidental diffuse low-grade gliomas located within/close to eloquent areas in the dominant hemisphere, treated with maximal surgical resection according to functional boundaries under intraoperative functional cortico-subcortical monitoring under awake conditions, and with a minimal follow-up of 24months...
February 1, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28156536/caregiver-time-burden-in-newly-diagnosed-glioblastoma-a-prospective-analysis
#18
Christine Pittman, Nimish Mohile
242 Background: Caregiver (CG) burden is particularly high in glioblastoma (GBM) because neurologic deficits lead to cognitive dysfunction and physical dependence. The amount of time that CGs devote to GBM pts is not well described. The extent to which time burden impacts CG quality of life and perceived burden is unknown. METHODS: We performed an IRB-approved prospective analysis of 38 CGs of pts with newly diagnosed GBM enrolled over 8 mo. at a single academic institution. CGs were defined as individuals responsible for any aspect of pt support, and multiple CGs were allowed for each pt...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28152732/reducing-pain-agitation-and-delirium-to-optimize-outcomes-in-mechanically-ventilated-critically-ill-oncology-patients
#19
Dana Bullick, Sharon Barniak, Joanne McGovern, Trisha Patel, Jeffrey Hoag
233 Background: Greater than 60% of cancer patients experience chronic pain which is heightened in critical illness. Optimal pain assessment is challenging in the critically ill leading to under treatment due to sedation during mechanical ventilation (MV). The Society of Critical Care Medicine (SCCM) favors treating pain with intermittent boluses rather than continuous infusions; however,appropriate analgesic doses and means of titration are elusive leading to over sedation, prolonged ventilation, and delirium...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28152018/acute-kidney-injury-burden-in-different-clinical-units-data-from-nationwide-survey-in-china
#20
Xiaojing Tang, Dongping Chen, Shengqiang Yu, Li Yang, Changlin Mei
BACKGROUND: The inpatient morbidity and mortality of acute kidney injury (AKI) vary considerably in different clinical units, yet studies to compare the difference remain limited. METHODS: We compared the clinical characteristics of AKI in Intensive Care Unit (ICU), medical and surgical departments by using the data derived from the 2013 nationwide cross-sectional survey of AKI in China to capture variations among different clinical departments in recognition, management, and outcomes of AKI...
2017: PloS One
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