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https://www.readbyqxmd.com/read/28231474/early-disturbances-in-multimodal-evoked-potentials-as-a-prognostic-factor-for-long-term-disability-in-relapsing-remitting-multiple-sclerosis-patients
#1
Frédéric London, Souraya El Sankari, Vincent van Pesch
OBJECTIVE: The aim of this study was to investigate whether early alterations in evoked potentials (EPs) have a prognostic value in relapsing-remitting multiple sclerosis (RRMS). METHODS: We retrospectively selected 108 early MS patients with a neurological follow-up ranging from 5 to 15years, in whom multimodal EPs (visual, brainstem auditory, somatosensory and motor) were performed at diagnosis. A conventional ordinal score was used to quantify the observed abnormalities...
January 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28231468/parkinson-sac-domain-mutation-in-synaptojanin-1-impairs-clathrin-uncoating-at-synapses-and-triggers-dystrophic-changes-in-dopaminergic-axons
#2
Mian Cao, Yumei Wu, Ghazaleh Ashrafi, Amber J McCartney, Heather Wheeler, Eric A Bushong, Daniela Boassa, Mark H Ellisman, Timothy A Ryan, Pietro De Camilli
Synaptojanin 1 (SJ1) is a major presynaptic phosphatase that couples synaptic vesicle endocytosis to the dephosphorylation of PI(4,5)P2, a reaction needed for the shedding of endocytic factors from their membranes. While the role of SJ1's 5-phosphatase module in this process is well recognized, the contribution of its Sac phosphatase domain, whose preferred substrate is PI4P, remains unclear. Recently a homozygous mutation in its Sac domain was identified in early-onset parkinsonism patients. We show that mice carrying this mutation developed neurological manifestations similar to those of human patients...
February 22, 2017: Neuron
https://www.readbyqxmd.com/read/28231395/functional-connectivity-in-amygdalar-sensory-pre-motor-networks-at-rest-new-evidence-from-the-human-connectome-project
#3
Nicola Toschi, Andrea Duggento, Luca Passamonti
The word "e-motion" derives from the Latin word "ex-moveo" which literally means "moving away from something / somebody". Emotions are thus fundamental to prime action and goal-directed behavior with obvious implications for individual's survival. However, the brain mechanisms underlying the interactions between emotional and motor cortical systems remain poorly understood. A recent diffusion tensor imaging study in humans has reported the existence of direct anatomical connections between the amygdala and sensory/(pre)motor cortices, corroborating an initial observation in animal research...
February 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28231269/a-mouse-model-of-paralytic-myelitis-caused-by-enterovirus-d68
#4
Alison M Hixon, Guixia Yu, J Smith Leser, Shigeo Yagi, Penny Clarke, Charles Y Chiu, Kenneth L Tyler
In 2014, the United States experienced an epidemic of acute flaccid myelitis (AFM) cases in children coincident with a nationwide outbreak of enterovirus D68 (EV-D68) respiratory disease. Up to half of the 2014 AFM patients had EV-D68 RNA detected by RT-PCR in their respiratory secretions, although EV-D68 was only detected in cerebrospinal fluid (CSF) from one 2014 AFM patient. Given previously described molecular and epidemiologic associations between EV-D68 and AFM, we sought to develop an animal model by screening seven EV-D68 strains for the ability to induce neurological disease in neonatal mice...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28231027/insomnia-sleep-quality-and-quality-of-life-in-mild-to-moderate-parkinson-s-disease
#5
Shirin Shafazand, Douglas M Wallace, Kristopher L Arheart, Silvia Vargas, Corneliu C Luca, Henry Moore, Heather Katzen, Bonnie Levin, Carlos Singer
RATIONALE: Sleep disorders are prevalent in Parkinson's disease and yet under reported in clinical settings. The contribution of sleep disorders to health-related quality of life (HRQOL) for patients with this degenerative neurological disease are not well known. OBJECTIVES: To evaluate the impact of insomnia symptoms, obstructive sleep apnea (OSA), and poor sleep quality on HRQOL in a cohort of patients with idiopathic Parkinson's disease. METHODS: We enrolled a convenience sample of 66 adults seen in the University of Miami Movement Disorders Clinic between July 2011 and June 2013...
February 23, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28229454/analysis-of-a-fully-penetrant-spinocerebellar-ataxia-type-8-brazilian-family
#6
V P Cintra, C M Lourenço, M M V Rocha, P J Tomaselli, W Marques
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele...
February 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28229442/-rapidly-progressive-dementia-and-parkinsonism-associated-to-multiple-dural-arteriovenous-fistulas
#7
P Mejia, L M Piedra, X Merchan-Del Hierro
INTRODUCTION: Rapidly progressive dementias are an infrequent group of diseases characterised by cognitive deterioration and other neurological disorders that develop over a period ranging from weeks to months. Their causation is varied and includes a large number of neurodegenerative, toxic, metabolic, autoimmune, infectious and vascular conditions. CASE REPORT: We report the case of a 69-year-old male who was admitted to hospital due to a rapidly progressive dementia and parkinsonism caused by multiple dural arteriovenous fistulas, which were successfully treated by means of endovascular therapy...
March 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28229399/neurological-complications-of-the-leukemias-across-the-ages
#8
REVIEW
Stephanie Berg, Sucha Nand
PURPOSE OF REVIEW: Acute and chronic leukemias are heterogeneous diseases and can affect any part of the body upon initial discovery. Understanding the sequela of systemic involvement is key for proper diagnosis and treatment. RECENT FINDINGS: Over the decades, new research has emerged regarding neurological complications of the myeloid or lymphoid leukemias. Central nervous system involvement usually confers a poor prognosis and requires emergent treatment. Standard of care still involves systemic therapy, intrathecal administration of chemotherapeutic agents, and cranial radiation...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#9
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28229170/molecular-insight-of-arsenic-induced-carcinogenesis-and-its-prevention
#10
REVIEW
Paramita Mandal
Population of India and Bangladesh and many other parts of the world are badly exposed to arsenic through drinking water. Due to non-availability of safe drinking water, they are dependent on arsenic-contaminated water. Generally, poverty level is high in those areas with lack of proper nutrition. Arsenic is considered to be an environmental contaminant and widely distributed in the environment due to its natural existence and anthropogenic applications. Contamination of arsenic in both human and animal could occur through air, soil, and other sources...
February 22, 2017: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/28229125/the-clinical-neuroanatomical-and-neuropathologic-phenotype-of-tbk1-associated-frontotemporal-dementia-a-longitudinal-case-report
#11
Carolin A M Koriath, Martina Bocchetta, Emilie Brotherhood, Ione O C Woollacott, Penny Norsworthy, Javier Simón-Sánchez, Cornelis Blauwendraat, Katrina M Dick, Elizabeth Gordon, Sophie R Harding, Nick C Fox, Sebastian Crutch, Jason D Warren, Tamas Revesz, Tammaryn Lashley, Simon Mead, Jonathan D Rohrer
INTRODUCTION: Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear. METHODS: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28228797/femoral-neck-s-fracture-in-fahr-s-syndrome-case-report
#12
Marcello Sallì, Antonio D'Arienzo, Mariella Bonanno, Salvatore Morello, Antonino Sanfilippo, Giulia Letizia Mauro, Michele D'Arienzo
Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28228718/current-concepts-on-the-physiopathological-relevance-of-dopaminergic-receptors
#13
REVIEW
Ada Ledonne, Nicola B Mercuri
Dopamine (DA) is a key neurotransmitter modulating essential functions of the central nervous system (CNS), like voluntary movement, reward, several cognitive functions and goal-oriented behaviors. The factual relevance of DAergic transmission can be well appreciated by considering that its dysfunction is recognized as a core alteration in several devastating neurological and psychiatric disorders, including Parkinson's disease (PD) and associated movement disorders, as well as, schizophrenia, bipolar disorder, attention deficit hyperactivity disorder (ADHD) and addiction...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28228639/grin1-mutation-associated-with-intellectual-disability-alters-nmda-receptor-trafficking-and-function
#14
Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson
N-methyl-d-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R). Both individuals presented at birth with developmental delay and hypotonia associated with behavioral abnormalities and stereotypical movements. Recombinant NMDARs containing the mutant GluN1-G620R together with either GluN2A or GluN2B were evaluated for changes in their trafficking to the plasma membrane and their electrophysiological properties...
February 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28228636/progressive-ischemic-stroke-due-to-thyroid-storm-associated-cerebral-venous-thrombosis
#15
Natsumi Tanabe, Eiji Hiraoka, Masataka Hoshino, Gautam A Deshpande, Kana Sawada, Yasuhiro Norisue, Jumpei Tsukuda, Toshihiko Suzuki
BACKGROUND Cerebral venous thrombosis (CVT) is a rare but fatal complication of hyperthyroidism that is induced by the hypercoagulable state of thyrotoxicosis. Although it is frequently difficult to diagnose CVT promptly, it is important to consider it in the differential diagnosis when a hyperthyroid patient presents with atypical neurologic symptoms. CASE REPORT A 49-year-old Japanese female with unremarkable medical history came in with thyroid storm and multiple progressive ischemic stroke identified at another hospital...
February 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28228431/right-upper-quadrant-abdominal-pain-as-the-initial-presentation-of-polyarteritis-nodosa
#16
Ricardo Gago, Lee Ming Shum, Luis M Vilá
Polyarteritis nodosa (PAN) is a necrotising vasculitis that involves medium and small vessels. PAN generally presents with constitutional, cutaneous, neurological, renal and gastrointestinal manifestations. However, PAN initially involving a single organ/system is uncommon. Here, we present a 42-year-old man who was hospitalised because of severe right upper quadrant abdominal pain that started 2 months before. Physical examination was remarkable for right upper quadrant abdominal tenderness. Abdominopelvic CT showed lymphadenopathy but no hepatic, gallbladder, pancreatic, intestinal or renal abnormalities...
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28228281/dysregulation-of-the-cytokine-gm-csf-induces-spontaneous-phagocyte-invasion-and-immunopathology-in-the-central-nervous-system
#17
Sabine Spath, Juliana Komuczki, Mario Hermann, Pawel Pelczar, Florian Mair, Bettina Schreiner, Burkhard Becher
Chronic inflammatory diseases are influenced by dysregulation of cytokines. Among them, granulocyte macrophage colony stimulating factor (GM-CSF) is crucial for the pathogenic function of T cells in preclinical models of autoimmunity. To study the impact of dysregulated GM-CSF expression in vivo, we generated a transgenic mouse line allowing the induction of GM-CSF expression in mature, peripheral helper T (Th) cells. Antigen-independent GM-CSF release led to the invasion of inflammatory myeloid cells into the central nervous system (CNS), which was accompanied by the spontaneous development of severe neurological deficits...
February 21, 2017: Immunity
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#18
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28226989/a-novel-portable-low-cost-kinect-based-system-for-motion-analysis-in-neurological-diseases
#19
Joao Paulo Silva Cunha, Ana Patricia Rocha, Hugo Miguel Pereira Choupina, Jose Maria Fernandes, Maria Jose Rosas, Rui Vaz, Felix Achilles, Anna Mira Loesch, Christian Vollmar, Elisabeth Hartl, Soheyl Noachtar, Joao Paulo Silva Cunha, Ana Patricia Rocha, Hugo Miguel Pereira Choupina, Jose Maria Fernandes, Maria Jose Rosas, Rui Vaz, Felix Achilles, Anna Mira Loesch, Christian Vollmar, Elisabeth Hartl, Soheyl Noachtar, Christian Vollmar, Ana Patricia Rocha, Elisabeth Hartl, Rui Vaz, Hugo Miguel Pereira Choupina, Soheyl Noachtar, Felix Achilles, Anna Mira Loesch, Jose Maria Fernandes, Joao Paulo Silva Cunha, Maria Jose Rosas
Many neurological diseases, such as Parkinson's disease and epilepsy, can significantly impair the motor function of the patients, often leading to a dramatic loss of their quality of life. Human motion analysis is regarded as fundamental towards an early diagnosis and enhanced follow-up in this type of diseases. In this contribution, we present NeuroKinect, a novel system designed for motion analysis in neurological diseases. This system includes an RGB-D camera (Microsoft Kinect) and two integrated software applications, KiT (KinecTracker) and KiMA (Kinect Motion Analyzer)...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226792/steady-state-visual-evoked-potential-based-brain-computer-interface-for-cognitive-assessment
#20
Nicolai Westergren, Rasmus L Bendtsen, Troels W Kjaer, Carsten E Thomsen, S Puthusserypady, Helge B D Sorensen, Nicolai Westergren, Rasmus L Bendtsen, Troels W Kjaer, Carsten E Thomsen, S Puthusserypady, Helge B D Sorensen, Troels W Kjaer, Nicolai Westergren, Carsten E Thomsen, Helge B D Sorensen, Rasmus L Bendtsen, S Puthusserypady
Cognitive assessment is of growing importance, with the general population getting older and a rapidly growing incidence of dementia, which is a major public health issue. Treatment of dementia must, to be most effective, start early in the disease process. Thus, early detection of cognitive decline is important. Cognitive decline may be detected using fully-automated computerized assessment. Such systems will provide inexpensive and widely available screenings of cognitive ability. The aim of this pilot study is to develop a real time steady state visual evoked potential (SSVEP) based brain-computer interface (BCI) for neurological cognitive assessment...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
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