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https://www.readbyqxmd.com/read/29452069/idiopathic-isolated-unilateral-hypoglossal-nerve-palsy-a-report-of-2-cases-and-review-of-the-literature
#1
Akio Shibata, Masashi Kimura, Kenichiro Ishiabashi, Masahiro Umemura
Hypoglossal nerve palsy (HNP) is a common finding in neurologic diseases when associated with other cranial nerve palsies or further pathology and exhibits characteristic clinical manifestations, including unilateral atrophy of the musculature of the tongue. It occasionally appears as the initial or solitary sign of an intracranial or extracranial space-occupying lesion, head or neck injury, or vascular abnormality of the internal carotid artery. There are few cases of idiopathic isolated unilateral HNP, which should be diagnosed through exclusion...
February 2, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29451896/hypomyelinating-disorders-in-china-the-clinical-and-genetic-heterogeneity-in-119-patients
#2
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing...
2018: PloS One
https://www.readbyqxmd.com/read/29451699/development-and-validation-of-the-pediatric-stroke-quality-of-life-measure
#3
Andrea Fiume, Gabrielle Deveber, Shu-Hyun Jang, Colleen Fuller, Shani Viner, Sharon Friefeld
AIM: To develop and validate a disease-specific parent proxy and child quality of life (QoL) measure for patients aged 2 to 18 years surviving cerebral sinovenous thrombosis (CSVT) and arterial ischaemic stroke (AIS). METHOD: Utilizing qualitative and quantitative methods, we developed a 75-item Pediatric Stroke Quality of Life Measure (PSQLM) questionnaire. We mailed the PSQLM and a standardized generic QoL measure, Pediatric Quality of Life Inventory (PedsQL), to 353 families...
February 16, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29451598/performance-of-cryptococcal-antigen-lateral-flow-assay-in-serum-cerebrospinal-fluid-whole-blood-and-urine-in-hiv-infected-patients-with-culture-proven-cryptococcal-meningitis-admitted-at-a-brazilian-referral-center
#4
José E Vidal, Carolina Toniolo, Adriana Paulino, Arnaldo L Colombo, Marilena Dos Anjos Martins, Cristina da Silva Meira, Renata Guise Soares Azevedo, Vera Lucia Pereira-Chioccola, Hélio Rodrigues Gomes, Marcia Dos Santos Lazera, Augusto C Penalva de Oliveira, David R Boulware
Cryptococcal meningitis is the most common cause of opportunistic meningitis in HIV-infected patients in Brazil and causes unacceptable high mortality rates. In this study, HIV-infected patients with a first episode of culture-proven cryptococcal meningitis in cerebrospinal fluid (CSF) were prospectively included in order to evaluate sensitivity of cryptococcal antigen (CrAg) lateral flow assay (LFA) in serum, CSF, whole blood (fingerstick), and fresh urine. In addition, HIV-infected patients with other neurological confirmed diseases were included in order to evaluate the specificity of CrAg LFA in serum...
2018: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/29451587/diagnosing-dementia-in-lower-educated-older-persons-validation-of-a-brazilian-portuguese-version-of-the-rowland-universal-dementia-assessment-scale-rudas
#5
Narahyana B de Araujo, Thomas R Nielsen, Knut Engedal, Maria L Barca, Evandro S Coutinho, Jerson Laks
OBJECTIVE: To validate the Rowland Universal Dementia Assessment Scale for use in Brazil (RUDAS-BR). METHODS: We first completed an English-Brazilian Portuguese translation and back-translation of the RUDAS. A total of 135 subjects over 60 years of age were included: 65 cognitively healthy and 70 with Alzheimer's disease (AD) according to the DSM-IV and Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) criteria...
February 15, 2018: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/29451202/stem-cells-for-spinal-cord-injuries-bearing-translational-potential
#6
REVIEW
Kyriakos Dalamagkas, Magdalini Tsintou, Alexander M Seifalian
Spinal cord injury (SCI) is a highly debilitating neurological disease, which still lacks effective treatment strategies, causing significant financial burden and distress to the affected families. Nevertheless, nanotechnology and regenerative medicine strategies holding promise for the development of novel therapies that would reach from bench to bedside to serve the SCI patients. There has already been significant progress in the field of cell-based therapies, with the clinical application for SCI, currently in phase II of the clinical trial...
January 2018: Neural Regeneration Research
https://www.readbyqxmd.com/read/29450761/an-electroglottographical-analysis-based-discriminant-function-model-differentiating-multiple-sclerosis-patients-from-healthy-controls
#7
George D Vavougios, Triantafyllos Doskas, Kostas Konstantopoulos
Dysarthrophonia is a predominant symptom in many neurological diseases, affecting the quality of life of the patients. In this study, we produced a discriminant function equation that can differentiate MS patients from healthy controls, using electroglottographic variables not analyzed in a previous study. We applied stepwise linear discriminant function analysis in order to produce a function and score derived from electroglottographic variables extracted from a previous study. The derived discriminant function's statistical significance was determined via Wilk's λ test (and the associated p value)...
February 15, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29450676/comorbid-obstructive-sleep-apnea-and-increased-risk-for-sickle-cell-disease-morbidity
#8
Tal Katz, Jeffrey Schatz, Carla W Roberts
PURPOSE: Sickle cell disease (SCD) imparts an increased risk for obstructive sleep apnea (OSA) in childhood. Studies of pediatric SCD have identified an increased risk for pain and neurologic complications with comorbid OSA. We determined the rate of a broad range of SCD-related medical complications to better characterize the spectrum of SCD complications related to OSA. METHODS: Retrospective chart review at a single hematology clinic identified 641 youth with SCD who received consistent screenings for OSA as part of routine hematological health maintenance visits over an 11-year period...
February 15, 2018: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29450650/access-to-the-cns-biomarker-strategies-for-dopaminergic-treatments
#9
REVIEW
Willem Johan van den Brink, Semra Palic, Isabelle Köhler, Elizabeth Cunera Maria de Lange
Despite substantial research carried out over the last decades, it remains difficult to understand the wide range of pharmacological effects of dopaminergic agents. The dopaminergic system is involved in several neurological disorders, such as Parkinson's disease and schizophrenia. This complex system features multiple pathways implicated in emotion and cognition, psychomotor functions and endocrine control through activation of G protein-coupled dopamine receptors. This review focuses on the system-wide effects of dopaminergic agents on the multiple biochemical and endocrine pathways, in particular the biomarkers (i...
February 15, 2018: Pharmaceutical Research
https://www.readbyqxmd.com/read/29450640/incidence-of-perioperative-complications-in-total-hip-and-knee-arthroplasty-in-patients-with-parkinson-disease
#10
Tankamani Sharma, Wolfgang Hönle, René Handschu, Werner Adler, Tarun Goyal, Alexander Schuh
INTRODUCTION: The aim of this study is to evaluate the difference in perioperative complication rate in total hip, bipolar hemiarthroplasties and total knee arthroplasty in patients with Parkinson disease in trauma and elective surgery in our Musculoskeletal Center during a period of 10 years. MATERIAL AND METHOD: Between 2006 and 2016, 45 bipolar hemiarthroplasties in trauma surgery, 15 total knee and 19 total hip arthroplasties in patients with Parkinson's disease were performed...
February 15, 2018: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/29449814/multisite-delayed-feedback-for-electrical-brain-stimulation
#11
Oleksandr V Popovych, Peter A Tass
Demand-controlled deep brain stimulation (DBS) appears to be a promising approach for the treatment of Parkinson's disease (PD) as revealed by computational, pre-clinical and clinical studies. Stimulation delivery is adapted to brain activity, for example, to the amount of neuronal activity considered to be abnormal. Such a closed-loop stimulation setup might help to reduce the amount of stimulation current, thereby maintaining therapeutic efficacy. In the context of the development of stimulation techniques that aim to restore desynchronized neuronal activity on a long-term basis, specific closed-loop stimulation protocols were designed computationally...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29449691/enhanced-release-of-acid-sphingomyelinase-enriched-exosomes-generates-a-lipidomics-signature-in-csf-of-multiple-sclerosis-patients
#12
Damiana Pieragostino, Ilaria Cicalini, Paola Lanuti, Eva Ercolino, Maria di Ioia, Mirco Zucchelli, Romina Zappacosta, Sebastiano Miscia, Marco Marchisio, Paolo Sacchetta, Marco Onofrj, Piero Del Boccio
Multiple Sclerosis (MuS) is a complex multifactorial neuropathology, resulting in heterogeneous clinical presentation. A very active MuS research field concerns the discovery of biomarkers helpful to make an early and definite diagnosis. The sphingomyelin pathway has emerged as a molecular mechanism involved in MuS, since high levels of ceramides in cerebrospinal fluid (CSF) were related to axonal damage and neuronal dysfunction. Ceramides are the hydrolysis products of sphingomyelins through a reaction catalyzed by a family of enzymes named sphingomyelinases, which were recently related to myelin repair in MuS...
February 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29449188/novel-homozygous-variants-in-atcay-mcoln1-and-sacs-in-complex-neurological-disorders
#13
Humera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, Tobias Bäumer, Frauke Hinrichs, Muhammad Wajid, Alexander Münchau, Sadaf Naz, Katja Lohmann
BACKGROUND: Neurological disorders comprise a large group of clinically and genetically heterogeneous disorders, many of which have a genetic cause. In addition to a detailed neurological examination, exome sequencing is being increasingly used as a complementary diagnostic tool to identify the underlying genetic cause in patients with unclear, supposedly genetically determined disorders. OBJECTIVE: To identify the genetic cause of a complex movement disorder in five consanguineous Pakistani families...
February 6, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29448970/dementia-clinical-trial-implications-of-mild-behavioral-impairment
#14
Moyra E Mortby, Sandra E Black, Serge Gauthier, David Miller, Anton Porsteinsson, Eric E Smith, Zahinoor Ismail
The World Alzheimer Report 2016 estimated that 47 million people are living with dementia worldwide (Alzheimer's Disease International, 2016). In the inaugural World Health Organization Ministerial Conference on Global Action against Dementia, six of the top ten research priorities were focused on prevention, identification, and reduction of dementia risk, and on delivery and quality of care for people with dementia and their carers (Shah et al., 2016). While the Lancet Neurology Commission has suggested that even minor advances to delay progression or ameliorate symptoms might have substantial financial and societal benefits (Winblad et al...
February 2018: International Psychogeriatrics
https://www.readbyqxmd.com/read/29448133/exposure-to-the-rock-inhibitor-fasudil-promotes-gliogenesis-of-neural-stem-cells-in-vitro
#15
Zubair Ahmed Nizamudeen, Lisa Chakrabarti, Virginie Sottile
Fasudil is a clinically approved Rho-associated protein kinase (ROCK) inhibitor that has been used widely to treat cerebral consequences of subarachnoid hemorrhage. It is known to have a positive effect on animal models of neurological disorders including Parkinson's disease and stroke. However, its cellular effect on progenitor populations and differentiation is not clearly understood. While recent studies suggest that fasudil promotes the mobilization of neural stem cells (NSCs) from the subventricular zone in vivo and promotes the differentiation of the C17...
February 6, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29447938/hypothesis-is-there-a-link-between-the-immune-response-to-human-herpes-virus-type-6%C3%AE-hhv-6%C3%AE-infection-and-the-interaction-network-interactome-of-the-genes-encoding-the-ctss-ptx3-chi3l1-mx1-cxcl16-birc3-and-bst2-proteins
#16
Erasmia Rouka
Human Herpes Virus type 6 (HHV-6) is a ubiquitous virus consisting of two viral species, HHV-6A and HHV-6B that have been associated with numerous and diverse pathologies. As many other viruses HHV-6 modulates the apoptotic machinery of its host to subvert immune response to infection, yet the exact mechanisms behind this process remain under investigation. The genes encoding the CTSS, PTX3, CHI3L1, Mx1, CXCL16, BIRC3 and BST2 proteins have been linked to HHV-6Α related neurologic diseases whilst also associated with apoptosis...
March 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29447392/activity-dependent-functions-of-non-electrical-glial-cells
#17
Daisuke Kato, Kei Eto, Junichi Nabekura, Hiroaki Wake
Electrical activity is essential for brain function. However, neurons, the electrically active cells, are less numerous than the non-electrical glial cells in the central nervous system. The non-electrical components modify the function of neural circuits, depending on the electrical neuronal activity, by wrapping synapses, myelinating axons, and phagocytozing the neuronal components. Moreover, recent evidence has suggested that they contribute to neurological and psychiatric disease by regulating neuronal circuits, ultimately affecting their behavior...
February 13, 2018: Journal of Biochemistry
https://www.readbyqxmd.com/read/29447225/low-apolipoprotein-a-i-levels-in-friedreich-s-ataxia-and-in-frataxin-deficient-cells-implications-for-therapy
#18
QingQing Wang, Lili Guo, Cassandra J Strawser, Lauren A Hauser, Wei-Ting Hwang, Nathaniel W Snyder, David R Lynch, Clementina Mesaros, Ian A Blair
Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, which results primarily from reduced expression of the mitochondrial protein frataxin. FA has an estimated prevalence of one in 50,000 in the population, making it the most common hereditary ataxia. Paradoxically, mortality arises most frequently from cardiomyopathy and cardiac failure rather than from neurological effects. Decreased high-density lipoprotein (HDL) and apolipoprotein A-I (ApoA-l) levels in the general population are associated with an increased risk of mortality from cardiomyopathy and heart failure...
2018: PloS One
https://www.readbyqxmd.com/read/29447051/targeting-crosstalk-between-nuclear-factor-erythroid-derived-2-like-2-and-nuclear-factor-kappa-beta-pathway-by-nrf2-activator-dimethyl-fumarate-in-epileptogenesis
#19
Neha Singh, Sheekha Vijayanti, Lekha Saha
Epilepsy is a complex, chronic neurological disorder characterized by increased and abnormal synchronization of neuronal electrical activity, which is manifested as seizures. It is associated with many comorbid conditions such as depression, anxiety, sleep disorder, psychiatric disorder etc. which consequently causes higher mortality rate. The understanding of its cellular and molecular mechanism is partial, because of which it remains an ongoing health problem, despite the increasing availability of newer antiepileptic drugs...
February 15, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29446979/synovial-sarcoma-mimicking-a-thoracic-dumbell-schwannoma-a-case-report
#20
Susanth Subramanian, Gandham Edmond Jonathan, Bimal Patel, Krishna Prabhu
INTRODUCTION: Synovial sarcoma is a rare mesenchymal malignant neoplasm that accounts for less than 10% of soft tissue sarcomas. About 95% of the sarcomas occur in the extremities. Primary synovial sarcomas of the spine are a rare tumor arising from the paravertebral regions, paraspinal muscles or epidural spaces. PURPOSE: To report an atypical radiological presentation of synovial sarcoma of the thoracic spine mimicking a nerve sheath tumor in an elderly adult and describe the management with review of the literature...
February 15, 2018: British Journal of Neurosurgery
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