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https://www.readbyqxmd.com/read/29151229/effects-of-female-sex-steroids-administration-on-pathophysiologic-mechanisms-in-traumatic-brain-injury
#1
REVIEW
Mohammad Khaksari, Zahra Soltani, Nader Shahrokhi
Secondary brain damage following initial brain damage in traumatic brain injury (TBI) is a major cause of adverse outcomes. There are many gaps in TBI research and a lack of therapy to limit debilitating outcomes in TBI or enhance the neurogenesis, despite pre-clinical and clinical research performed in TBI. Females show harmful outcomes against brain damage including TBI less than males, independent of different TBI occurrence. A significant reduction in secondary brain damage and improvement in neurologic outcome post-TBI has been reported following the use of progesterone and estrogen in many experimental studies...
November 19, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/29151092/conversion-factitious-disorder-and-malingering-a-distinct-pattern-or-a-continuum
#2
Silvio Galli, Laurent Tatu, Julien Bogousslavsky, Selma Aybek
This chapter is aimed at highlighting the recent findings concerning physiopathology, diagnosis, and management of conversion, factitious disorder, and malingering. Conversion disorder is the unintentional production of neurological symptom, whereas malingering and factitious disorder represent the voluntary production of symptoms with internal or external incentives. They have a close history and this has been frequently confounded. Practitioners are often confronted to medically unexplained symptoms; they represent almost 30% of neurologist's consultation...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151060/genetics-of-parkinson-s-disease-and-related-disorders
#3
REVIEW
Pei-Lan Zhang, Yan Chen, Chen-Hao Zhang, Yu-Xin Wang, Pedro Fernandez-Funez
Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic markers revealing a widespread and progressive pathology. Many other neurological conditions also include parkinsonism as primary or secondary symptom, confounding their diagnosis and treatment. Although overall disease course and end-stage pathological examination single out these conditions, the significant overlaps suggest that they are part of a continuous disease spectrum...
November 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29150919/a-focus-on-the-beneficial-effects-of-alpha-synuclein-and-a-re-appraisal-of-synucleinopathies
#4
Larisa Ryskalin, Carla L Busceti, Fiona Limanaqi, Francesca Biagioni, Stefano Gambardella, Francesco Fornai
Alpha synuclein (α-syn) belongs to a class of proteins which are commonly considered to play a detrimental role in neuronal survival. This assumption is based on the occurrence of a severe neuronal degeneration in patients carrying a multiplication of the α-syn gene (SNCA) and in a variety of experimental models, where overexpression of α-syn leads to cell death and neurological impairment. In these conditions, a higher amount of normally structured α-syn produces a damage, which is even worse compared with that produced by α-syn owing an abnormal structure (as occurring following point gene mutations)...
November 16, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/29150902/wieacker-wolff-syndrome-with-associated-cleft-palate-in-a-female-case
#5
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150900/genetic-overlap-between-epilepsy-and-schizophrenia-evidence-from-cross-phenotype-analysis-in-hong-kong-chinese-population
#6
Hongsheng Gui, Miaoxin Li, Pak C Sham, Larry Baum, Patrick Kwan, Stacey S Cherny
Epilepsy and schizophrenia are common and typical neurological or mental illness respectively, and sometimes they comorbid in the same patients, however the underlying genetic relationship between the two brain diseases is still not fully understood. To investigate the possible genetic contribution to their comorbidity, we performed polygenic risk score (PRS) analyses and genetic correlation estimation so as to identify the overall genetic overlap between the two diseases. The global schizophrenia PRS is strongly associated with schizophrenia phenotype in Hong Kong population (odds ratio = 1...
November 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29150899/p-arg69trp-in-rnaseh2c-is-a-founder-variant-in-three-indian-families-with-aicardi-gouti%C3%A3-res-syndrome
#7
Malavika Hebbar, Anil Kanthi, Aroor Shrikiran, Snehal Patil, Mamta Muranjan, Febi Francis, Vishnu Bhat B, Katta M Girisha, Anju Shukla
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150890/suspended-animation-the-past-present-and-future-of-major-cardiothoracic-trauma
#8
REVIEW
Syed Mohiyaddin, Prakash Nanjaiah, Ahmed O Saad, Metesh N Acharya, Tanveer A Khan, Rhodri H Davies, Saeed Ashraf
About 50% of the trauma victims die at the scene mostly because of exsanguinating haemorrhage. Most trials of resuscitation fail in face of the ongoing bleeding. Ongoing research/studies to save these victims by inducing rapid hypothermia using cardiopulmonary bypass as an emergency initial measure along with delayed resuscitation show improved outcomes. A comprehensive review of this research and analysis of studies showed that rapid induction of hypothermia within 5 min of cardiac arrest is associated with better survival and improved neurological outcome...
November 18, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/29150638/the-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-associated-gene-rogdi-encodes-a-novel-presynaptic-protein
#9
Donatus Riemann, Rebecca Wallrafen, Thomas Dresbach
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and hence the pathogenic mechanisms underlying Kohlschütter-Tönz syndrome have remained elusive. Using immunofluorescence of rat cultured hippocampal neurons and brain sections we find that Rogdi is enriched at synaptic sites...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150630/inhibition-of-myeloid-differentiation-primary-response-protein-88-provides-neuroprotection-in-early-brain-injury-following-experimental-subarachnoid-hemorrhage
#10
Huiying Yan, Dingding Zhang, Yongxiang Wei, Hongbin Ni, Weibang Liang, Huasheng Zhang, Shuangying Hao, Wei Jin, Kuanyu Li, Chun-Hua Hang
Accumulating of evidence suggests that activation of nuclear factor-kappa B (NF-κB) and mitogen-activated protein kinases (MAPKs) exacerbates early brain injury (EBI) following subarachnoid hemorrhage (SAH) by provoking pro-inflammatory and pro-apoptotic signaling. Myeloid differentiation primary response protein 88 (MyD88) is an endogenous adaptor protein in the toll-like receptors (TLRs) and interleukin (IL) -1β family signaling pathways and acts as a bottle neck in the NF-κB and MAPK pathways. Here, we used ST2825, a selective inhibitor of MyD88, to clarify whether inhibiting MyD88 could provide neuroprotection in EBI following SAH...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150325/ilex-paraguariensis-potential-antioxidant-on-aluminium-toxicity-in-an-experimental-model-of-alzheimer-s-disease
#11
Pâmela M Bortoli, Carla Alves, Eduarda Costa, Ana Paula Vanin, Jéssica R Sofiatti, Diego P Siqueira, Rogério M Dallago, Helen Treichel, Gean Delise L P Vargas, Rosilene R Kaizer
Ilex paraguariensis, yerba mate is a native plant from the southern region of Brazil. Studies showed that yerba mate has an antioxidant potential, which could help to reduce the risk of developing neurodegenerative diseases, as Alzheimer's Disease (AD). It's known that I. paraguariensis grows in acid soils with aluminium (Al), which is bioavailable in these soils. Al has a neurotoxic potential related with the progression of neurological disorders. This study aim was to evaluate the potential of I. paraguariensis in the etiology of AD using strains of Caenorhabditis elegans and the concentration of Al and antioxidants in the yerba mate extract...
November 7, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/29150315/surgical-options-for-osteoporotic-vertebral-compression-fractures-complicated-with-spinal-deformity-and-neurologic-deficit
#12
Kalliopi Alpantaki, Michael Dohm, Panagiotis Korovessis, Alexander G Hadjipavlou
INTRODUCTION: This paper describes surgical options for Osteoporotic vertebral compression fracture (OVCF) with acute flexible or chronic rigid kyphosis, and pseudarthrosis complicated with pain and neurologic deficit. METHODS: This study has two components. a) A prospective clinical study of surgical treatment of 31 patients (age: 69±11 years) with either acute flexible or progressive pseudarthrotic kyphosis manifested with severe pain or neurological deficit between 2010 and 2014...
November 12, 2017: Injury
https://www.readbyqxmd.com/read/29150310/zika-virus-in-french-polynesia-2013-14-anatomy-of-a-completed-outbreak
#13
REVIEW
Didier Musso, Hervé Bossin, Henri Pierre Mallet, Marianne Besnard, Julien Broult, Laure Baudouin, José Eduardo Levi, Ester C Sabino, Frederic Ghawche, Marion C Lanteri, David Baud
The Zika virus crisis exemplified the risk associated with emerging pathogens and was a reminder that preparedness for the worst-case scenario, although challenging, is needed. Herein, we review all data reported during the unexpected emergence of Zika virus in French Polynesia in late 2013. We focus on the new findings reported during this outbreak, especially the first description of severe neurological complications in adults and the retrospective description of CNS malformations in neonates, the isolation of Zika virus in semen, the potential for blood-transfusion transmission, mother-to-child transmission, and the development of new diagnostic assays...
November 14, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/29150237/-maternal-deaths-due-to-amniotic-fluid-embolism-results-from-the-french-confidential-enquiry-into-maternal-deaths-2010-2012
#14
E Morau, A Proust, J-C Ducloy
Amniotic fluid embolism (AFE) is an unpredictable, dreadful complication of pregnancy or childbirth. EA typically includes in the same lapse of time respiratory, haemodynamic, neurological and hemorrhagic symptoms (from early and severe coagulopathy). Immediate supportive treatment by a multidisciplinary team is the cornerstone of the management. Between 2010 an 2012 in France, 24 deaths were related to AFE giving a maternal mortality ratio of 1/100,000 live births (CI 95% 0.6-1.4). AFE ranks as the second leading cause of direct maternal death...
November 14, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29150169/vitamin-d-and-walking-speed-in-older-adults-systematic-review-and-meta-analysis
#15
REVIEW
Cedric Annweiler, Samir Henni, Stéphane Walrand, Manuel Montero-Odasso, Gustavo Duque, Guillaume T Duval
Vitamin D is involved in musculoskeletal health. There is no consensus on a possible association between circulating 25-hydroxyvitamin D (25OHD) concentrations and walking speed, a 'vital sign' in older adults. Our objective was to systematically review and quantitatively assess the association of 25OHD concentration with walking speed. A Medline search was conducted on June 2017, with no limit of date, using the MeSH terms "Vitamin D" OR "Vitamin D Deficiency" combined with "Gait" OR "Gait disorders, Neurologic" OR "Walking speed" OR "Gait velocity"...
December 2017: Maturitas
https://www.readbyqxmd.com/read/29149949/attitudes-toward-organ-donation-among-relatives-of-the-patients-who-are-being-followed-up-in-intensive-care-and-dialysis-units
#16
B Kahveci, K Topal, Ç Gereklioglu, H Aksoy
INTRODUCTION: This study sought to investigate attitudes toward organ donation (OD) among the relatives of patients who are being followed up in intensive care units (ICU) and dialysis units. MATERIALS AND METHODS: This cross-sectional study was conducted with relatives of the patients who were being followed up in hemodialysis (HD) and peritoneal dialysis (PD) units and Neurosurgery, Neurology, Anesthesia, and Reanimation ICUs of Adana Numune Research and Training Hospital...
November 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/29149916/whole-exome-sequencing-in-amyotrophic-lateral-sclerosis-suggests-nek1-is-a-risk-gene-in-chinese
#17
Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris, Anjali K Henders, Zi-Bing Jin, Zhongshan Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Bryan J Mowry, Shu Ran, David C Reutens, Sharon Song, Li-Jun Tan, Lu Tang, Robyn H Wallace, Lawrie Wheeler, Jinyu Wu, Jian Yang, Huji Xu, Peter M Visscher, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry...
November 17, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29149697/characteristics-of-motor-speech-phenotypes-in-multiple-sclerosis
#18
Jan Rusz, Barbora Benova, Hana Ruzickova, Michal Novotny, Tereza Tykalova, Jan Hlavnicka, Tomas Uher, Manuela Vaneckova, Michaela Andelova, Klara Novotna, Lucie Kadrnozkova, Dana Horakova
BACKGROUND: Motor speech disorders in multiple sclerosis (MS) are poorly understood and their quantitative, objective acoustic characterization remains limited. Additionally, little data regarding relationships between the severity of speech disorders and neurological involvement in MS, as well as the contribution of pyramidal and cerebellar functional systems on speech phenotypes, is available. METHODS: Speech data were acquired from 141 MS patients with Expanded Disability Status Scale (EDSS) ranging from 1 to 6...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29149668/parental-knowledge-and-attitudes-towards-epilepsy-a-study-from-jordan
#19
Amira Masri, Samah Aburahma, Aisha Khasawneh, Abdelkarim Al Qudah, Omar Nafi, Miral Al Momani, Faisal Khatib
PURPOSE: To explore the knowledge, attitudes and behaviors of parents whose children were diagnosed with epilepsy. METHODS: Cross-sectional questionnaire based study of parents who accompanied their children with epilepsy to the child neurology clinics at three university hospitals in Jordan. RESULTS: Most parents (427, 90.3%) knew that epilepsy is not related to a psychiatric disease. Approximately half of the parents (245, 51.8%) used the internet as their source of knowledge, and most used Arabic websites...
November 8, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29149600/repair-of-uv-induced-dna-damage-independent-of-nucleotide-excision-repair-is-masked-by-mutyh
#20
Abdelghani Mazouzi, Federica Battistini, Sarah C Moser, Joana Ferreira da Silva, Marc Wiedner, Michel Owusu, Charles-Hugues Lardeau, Anna Ringler, Beatrix Weil, Jürgen Neesen, Modesto Orozco, Stefan Kubicek, Joanna I Loizou
DNA lesions caused by UV damage are thought to be repaired solely by the nucleotide excision repair (NER) pathway in human cells. Patients carrying mutations within genes functioning in this pathway display a range of pathologies, including an increased susceptibility to cancer, premature aging, and neurological defects. There are currently no curative therapies available. Here we performed a high-throughput chemical screen for agents that could alleviate the cellular sensitivity of NER-deficient cells to UV-induced DNA damage...
November 16, 2017: Molecular Cell
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