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https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#1
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28627719/the-frontal-assessment-battery-in-clinical-practice-a-systematic-review
#2
REVIEW
Miriam Hurtado-Pomares, M Carmen Terol-Cantero, Alicia Sánchez-Pérez, Paula Peral-Gómez, Desirée Valera-Gran, Eva María Navarrete-Muñoz
BACKGROUND: The frontal assessment battery (FAB) is a brief tool designed to evaluate executive function. Some studies have particularly focused on assessing its applicability addressing two issues: first, on detecting the brain regions responsible for the FAB performance, and second, on determining its capability for differential diagnosis. Our aim was to summarize and analyze critically the studies that assessed the neuroanatomical correspondence and the differential diagnostic value of the FAB in several study populations suffering from different pathologies...
June 19, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28623162/what-do-we-know-about-neurogenic-bladder-prevalence-and-management-in-developing-countries-and-emerging-regions-of-the-world
#3
REVIEW
Mikolaj Przydacz, Pierre Denys, Jacques Corcos
OBJECTIVE: To summarize information on Neurogenic Bladder (NB) epidemiology, management and access to patient treatment in developing countries and emerging regions of the world in order to propose future interventions and help governmental as well as non-governmental organizations design their action plans. METHODS: Different search methods were used to gather the maximum available data. They included strategic searches; reference checks; grey literature searches (reports, working papers, government documents, civil society information); contacting professional societies, registries, and authors; requesting unpublished data from organizations; and browsing related websites and journals...
June 13, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28616040/stem-cell-transplantation-for-spinal-cord-injury-a-meta-analysis-of-treatment-effectiveness-and-safety
#4
Xiao Fan, Jin-Zhao Wang, Xiao-Min Lin, Li Zhang
OBJECTIVE: The aim of this study was to evaluate the effectiveness and safety of stem cell transplantation for spinal cord injury (SCI). DATA SOURCES: PubMed, EMBASE, Cochrane, China National Knowledge Infrastructure, China Science and Technology Journal, Wanfang, and SinoMed databases were systematically searched by computer to select clinical randomized controlled trials using stem cell transplantation to treat SCI, published between each database initiation and July 2016...
May 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28612835/coexisting-variants-in-ostm1-and-maneal-cause-a-complex-neurodegenerative-disorder-with-nbia-like-brain-abnormalities
#5
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28612834/sex-chromosome-aneuploidies-and-copy-number-variants-a-further-explanation-for-neurodevelopmental-prognosis-variability
#6
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David, Bertrand Isidor
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV)...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28569221/a-four-part-working-bibliography-of-neuroethics-part-4-ethical-issues-in-clinical-and-social-applications-of-neuroscience
#7
EDITORIAL
Kira Becker, John R Shook, Martina Darragh, James Giordano
BACKGROUND: As a discipline, neuroethics addresses a range of questions and issues generated by basic neuroscientific research (inclusive of studies of putative neurobiological processes involved in moral and ethical cognition and behavior), and its use and meanings in the clinical and social spheres. Here, we present Part 4 of a four-part bibliography of the neuroethics literature focusing on clinical and social applications of neuroscience, to include: the treatment-enhancement discourse; issues arising in neurology, psychiatry, and pain care; neuroethics education and training; neuroethics and the law; neuroethics and policy and political issues; international neuroethics; and discourses addressing "trans-" and "post-" humanity...
May 31, 2017: Philosophy, Ethics, and Humanities in Medicine: PEHM
https://www.readbyqxmd.com/read/28562578/a-comparative-study-of-danhong-injection-and-salvia-miltiorrhiza-injection-in-the-treatment-of-cerebral-infarction-a-systematic-review-and-meta-analysis
#8
Kaihuan Wang, Dan Zhang, Jiarui Wu, Shi Liu, Xiaomeng Zhang, Bing Zhang
BACKGROUND: To evaluate systematically the clinical effectiveness and safety of Danhong injection (DI) and Salvia miltiorrhiza injection (SMI) in the treatment of cerebral infarction. METHODS: A literature search was conducted for retrieving randomized controlled trials (RCTs) on cerebral infarction treated by Danhong injection and SMI in the Cochrane Library, PubMed, Embase, China Biology Medicine disc, China National Knowledge Infrastructure Database, China Science and Technology Journal Database, Wanfang Database up to January 22, 2017...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28551736/back-pain-with-leg-pain
#9
REVIEW
Simon Vulfsons, Negev Bar, Elon Eisenberg
PURPOSE OF REVIEW: The clinical diagnostic dilemma of low back pain that is associated with lower limb pain is very common. In relation to back pain that radiates to the leg, the International Association for the Study of Pain (IASP) states: "Pain in the lower limb should be described specifically as either referred pain or radicular pain. In cases of doubt no implication should be made and the pain should be described as pain in the lower limb." RECENT FINDINGS: Bogduks' editorial in the journal PAIN (2009) helps us to differentiate and define the terms somatic referred pain, radicular pain, and radiculopathy...
July 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/28541234/psychiatric-specialty-training-in-greece
#10
EDITORIAL
M Margariti, V Kontaxakis, D Ploumpidis
The reform and development of psychiatric services require, in addition to financial resources, reserves in specialized human resources. The role of psychiatrists in this process, and at reducing the consequences of mental morbidity is evident. Psychiatrists are required to play a multifaceted role as clinicians, as experts in multidisciplinary team environments and as advisors in the recognition of public needs in mental health issues, as teachers and mentors for students and other health professionals, as researchers in order to enrich our knowledge in the scientific field of psychiatry, and as public health specialists in the development of the mental health services system...
January 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28508696/a-bibliometric-analysis-of-occupational-therapy-publications
#11
Ted Brown, Sharon A Gutman, Yuh-Shan Ho, Kenneth N K Fong
BACKGROUND: Bibliometrics involves the statistical analysis of the publications in a specific discipline or subject area. A bibliometric analysis of the occupational therapy refereed literature is needed. AIM: A bibliometric analysis was completed of the occupational therapy literature from 1991-2014, indexed in the Science Citation Index-Expanded or the Social Sciences Citation Index. METHOD: Publications were searched by title, abstract, keywords, and KeyWords Plus...
May 16, 2017: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#12
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488681/practices-and-views-of-neurologists-regarding-the-use-of-whole-genome-sequencing-in-clinical-settings-a-web-based-survey
#13
Iris Jaitovich Groisman, Thierry Hurlimann, Amir Shoham, Béatrice Godard
The use of Whole-Genome Sequencing (WGS) in clinical settings has brought up a number of controversial scientific and ethical issues. The application of WGS is of particular relevance in neurology, as many conditions are difficult to diagnose. We conducted a worldwide, web-based survey to explore neurologists' views on the benefits of, and concerns regarding, the clinical use of WGS, as well as the resources necessary to implement it. Almost half of the 204 neurologists in the study treated mostly adult patients (48%), while the rest mainly children (37...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488678/a-missense-variant-in-itpr1-provides-evidence-for-autosomal-recessive-sca29-with-asymptomatic-cerebellar-hypoplasia-in-carriers
#14
Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl
Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. We investigated the cause of autosomal recessive, congenital SCA in six affected family members from a large consanguineous family. Using whole-exome sequencing, we identified a homozygous ITPR1 missense variant [c.5360T>C; p.(L1787P)] segregating in all affected individuals. Heterozygous carriers were asymptomatic despite cerebellar hypoplasia...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28487868/severe-symptomatic-acute-hyponatremia-in-traumatic-brain-injury-responded-very-rapidly-to-a-single-15-mg-dose-of-oral-tolvaptan-a-mayo-clinic-health-system-hospital-experience-need-for-caution-with-tolvaptan-in-younger-patients-with-preserved-renal-function
#15
Macaulay Amechi Chukwukadibia Onuigbo, Nneoma Agbasi
Tolvaptan is now well established as a potent pharmaceutical agent for symptomatic hyponatremia from syndrome of inappropriate antidiuretic hormone secretion (SIADH), congestive heart failure and liver cirrhosis. Previous studies had recruited older (63-65 years) patients with mild renal impairment (serum creatinine, 1.3-1.4 mg/dl). A 2012 report in the Journal of Neurology, Neurosurgery & Psychiatry described tolvaptan as a "lifesaving drug". A major outcome concern in the treatment of chronic hyponatremia is potentially fatal pontine demyelination from over-rapid correction of serum sodium >0...
2017: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/28486773/nonpublication-of-trial-results-for-new-neurological-drugs-a-systematic-review
#16
REVIEW
Amanda K Hakala, Dean Fergusson, Jonathan Kimmelman
OBJECTIVE: To evaluate nonpublication rates among trials of new successful and unsuccessful neurological drugs. METHODS: "Licensed" drugs consisted of all novel agents receiving US Food and Drug Administration (FDA) licensure 2005-2012 inclusive in seven neurological disorders. "Stalled" drugs included all experimental agents tested in the same domains that had at least one completed phase III trial in the same time frame, but failed to receive FDA approval. Trials of these drugs were included in our sample if their primary outcome collection occurred before October 1, 2010...
May 9, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28484695/online-information-on-antioxidants-information-quality-indicators-commercial-interests-and-ranking-by-google
#17
Romaan Aslam, Daniel Gibbons, Pietro Ghezzi
The idea that antioxidant supplements can prevent or cure many diseases is extremely popular. To study the public understanding of antioxidants on the Web, we searched the term "antioxidants" in http://Google.com and analyzed 200 websites in terms of typology (news, commercial, professional, health portal, no-profit or government organization, scientific journals), disease or biological process mentioned (aging, immunity, neurological disease, diabetes, arthritis, etc.), and stance toward antioxidants, whether neutral, positive, or negative...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28482737/erratum
#18
(no author information available yet)
Conrad AL, Goodwin JW, Choi, J, et al. The relationship of exposure to anesthesia on outcomes in children with isolated oral clefts. Journal of Child Neurology. 2017;32(3): 308-315. Original doi: 10.1177/0883073816681257 On pages 310 and 312, figures 1 and 2 were not appearing in the online version of the article. The subsequent online (PDF) version of this article has now been corrected.
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28474775/subcortical-hyperintensities-in-the-cholinergic-system-are-associated-with-improvements-in-executive-function-in-older-adults-with-coronary-artery-disease-undergoing-cardiac-rehabilitation
#19
Calvin Santiago, Nathan Herrmann, Walter Swardfager, Mahwesh Saleem, Paul I Oh, Sandra E Black, Janelle Bradley, Krista L Lanctôt
OBJECTIVE: Coronary artery disease (CAD) is frequently accompanied by white matter hyperintensities and executive dysfunction. Because acetylcholine is important in executive function, these symptoms may be exacerbated by subcortical hyperintensities (SH) located in cholinergic (CH) tracts. This study investigated the effects of SH on cognitive changes in CAD patients undergoing a 48-week cardiac rehabilitation program. METHODS: Fifty patients (age 66.5 ± 7.1 years, 84% male) underwent the National Institute of Neurological Disorders and Stroke - Canadian Stroke Network neurocognitive battery at baseline and 48 weeks...
May 5, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28473091/acr-appropriateness-criteria-%C3%A2-cerebrovascular%C3%A2-disease
#20
Michael B Salmela, Shabnam Mortazavi, Bharathi D Jagadeesan, Daniel F Broderick, Judah Burns, Tejaswini K Deshmukh, H Benjamin Harvey, Jenny Hoang, Christopher H Hunt, Tabassum A Kennedy, Alexander A Khalessi, William Mack, Nandini D Patel, Joel S Perlmutter, Bruno Policeni, Jason W Schroeder, Gavin Setzen, Matthew T Whitehead, Rebecca S Cornelius, Amanda S Corey
Diseases of the cerebral vasculature represent a heterogeneous group of ischemic and hemorrhagic etiologies, which often manifest clinically as an acute neurologic deficit also known as stroke or less commonly with symptoms such as headache or seizures. Stroke is the fourth leading cause of death and is a leading cause of serious long-term disability in the United States. Eighty-seven percent of strokes are ischemic, 10% are due to intracerebral hemorrhage, and 3% are secondary to subarachnoid hemorrhage. The past two decades have seen significant developments in the screening, diagnosis, and treatment of ischemic and hemorrhagic causes of stroke with advancements in CT and MRI technology and novel treatment devices and techniques...
May 2017: Journal of the American College of Radiology: JACR
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