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Periphereal neurology

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https://www.readbyqxmd.com/read/28543916/hcv-rna-genomic-sequences-and-hcv-e2-glycoprotein-in-sural-nerve-biopsies-from-hcv-infected-patients-with-peripheral-neuropathy
#1
Sabino Russi, Domenico Sansonno, Salvatore Monaco, Sara Mariotto, Sergio Ferrari, Fabio Pavone, Gianfranco Lauletta, Franco Dammacco
AIMS: Peripheral neuropathy (PN), the major neurological complication of chronic HCV infection, is frequently associated with mixed cryoglobulinemia (MC) and small-vessel systemic vasculitis. While humoral and cell-mediated immune mechanisms are suspected to act together in an aberrant immune response that results in peripheral nerve damage, the role of HCV remains largely speculative. The possible demonstration of HCV in peripheral nerve tissue would obviously assume important pathogenic implications...
May 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28542837/phenotype-and-natural-history-of-variant-late-infantile-ceroid-lipofuscinosis-5
#2
Alessandro Simonati, Ruth E Williams, Nardo Nardocci, Minna Laine, Roberta Battini, Angela Schulz, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course. All patients underwent mutation analysis of the CLN5 gene and ultrastructural investigations of peripheral tissues...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#3
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542306/gene-signature-associated-with-benign-neurofibroma-transformation-to-malignant-peripheral-nerve-sheath-tumors
#4
Marta Martínez, Carlos O S Sorzano, Alberto Pascual-Montano, Jose M Carazo
Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients. Despite efforts in the field of (epi)genomics, the lack of prognostic biomarkers with which to predict disease evolution frustrates the adoption of appropriate early therapeutic measures. To identify potential biomarkers of malignant neurofibroma transformation, we integrated four human experimental studies and one for mouse, using a gene score-based meta-analysis method, from which we obtained a score-ranked signature of 579 genes...
2017: PloS One
https://www.readbyqxmd.com/read/28541902/complex-neuromuscular-changes-post-stroke-revealed-by-clustering-index-analysis-of-surface-electromyogram
#5
Xu Zhang, Zhongqing Wei, Xiaoting Ren, Xiaoping Gao, Xiang Chen, Ping Zhou
The objective of this study was to characterize complex neuromuscular changes induced by a hemisphere stroke through a novel clustering index (CI) analysis of surface electromyogram (EMG). The CI analysis was performed using surface EMG signals collected bilaterally from the thenar muscles of 17 subjects with stroke and 12 age-matched healthy controls during their performance of varying levels of isometric muscle contractions. Compared with the neurologically intact or contralateral muscles, mixed CI patterns were observed in the paretic muscles...
May 24, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28540905/tuberous-sclerosis-complex-bourneville-pringle-disease-in-a-25-year-old-female-with-bilateral-renal-angiomyolipoma-and-secondary-hypertension
#6
Sahar El Aoud, Faten Frikha, Mouna Snoussi, Raida Ben Salah, Zouhir Bahloul
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28538517/greater-corticostriatal-activation-associated-with-facial-motor-imagery-compared-with-motor-execution-a-functional-mri-study
#7
Meena M Makary, Seulgi Eun, Kyungmo Park
Motor imagery (MI) relies on conscious mental simulation of a motor act without overt motor output and can promote motor skill acquisition and facilitate rehabilitation for patients with stroke or neurological conditions. Although a plethora of neuroimaging studies have investigated the neural network of MI regarding different body parts, exploration of the neural correlates to facial MI remains warranted. Here, we used functional MRI with a large cohort of 41 participants who underwent motor execution (ME) and MI runs of mouth-stretching tasks...
May 19, 2017: Neuroreport
https://www.readbyqxmd.com/read/28537343/practice-patterns-for-spasticity-management-with-phenol-neurolysis
#8
Jay Karri, Manuel F Mas, Gerard E Francisco, Sheng Li
OBJECTIVE: To present practice patterns for phenol neurolysis procedures conducted for spasticity management. DESIGN: A retrospective review of 185 persons with spasticity who underwent phenol neurolysis procedures (n = 293) at an academic rehabilitation hospital and clinic. Patient demographics, concomitant spasticity treatments, and procedure relevant information were collected. RESULTS: The cohort included 71.9% males and 61.6% inpatient procedures...
May 24, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28537100/cerebrospinal-fluid-neurofilament-light-levels-mark-grey-matter-volume-in-clinically-isolated-syndrome-suggestive-of-multiple-sclerosis
#9
Carla Tortorella, Vita Direnzo, Maddalena Ruggieri, Stefano Zoccolella, Mariangela Mastrapasqua, Mariangela D'Onghia, Damiano Paolicelli, Franca Di Cuonzo, Claudio Gasperini, Maria Trojano
BACKGROUND: Brain atrophy is a known marker of irreversible tissue damage in multiple sclerosis (MS). Cerebrospinal fluid (CSF) osteopontin (OPN) and neurofilament light chain (NF-L) have been proposed as candidate surrogate markers of inflammatory and neurodegenerative processes in MS. OBJECTIVE: To evaluate the relationship between CSF NF-L and OPN levels and brain grey and white matter volumes in patients with clinically isolated syndrome (CIS) suggestive of MS...
May 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28533166/risk-factors-for-30-day-mortality-in-patients-with-methicillin-resistant-staphylococcus-aureus-bloodstream-infections
#10
Pedro Ayau, Ana C Bardossy, Guillermo Sanchez, Ricardo Ortiz, Daniela Moreno, Pamela Hartman, Khulood Rizvi, Tyler C Prentiss, Mary B Perri, Meredith Mahan, Vanthida Huang, Katherine Reyes, Marcus J Zervos
OBJECTIVES: Methicillin-resistant Staphylococcus aureus (MRSA) blood stream infections (BSI) are a major health care problem accounting for a large percentage of nosocomial infections. The aim of this study was to identify risk factors associated with 30-day mortality in patients with MRSA BSI. METHODS: This was a retrospective study performed in Southeast Michigan. Over a 9- year period, total of 1,168 patients were identified with MRSA BSI. Patient demographics and clinical data were retrieved and evaluated using electronic medical health records...
May 19, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28532172/cranio-spinal-rosai-dorfman-disease-case-series-and-literature-review
#11
Shashank S Joshi, Shilpa Joshi, Girish Muzumdar, Keki E Turel, Rajan M Shah, Indoo Ammbulkar, Muhammad Masood Hussain, Kishor A Choudhari
Rosai-Dorfman disease (RDD) is a rare condition similar to lymphomas, presenting with cervical lymphadenopathy in young adults. Extra-nodal involvement is relatively common but involvement of the central nervous system (CNS) is rare. Cranial RDD presents with symptoms of raised intracranial pressure, focal or generalised seizures, while spinal RDD presents with pain, peripheral neurological deficits and radiculopathy. In contrast to other similar neoplastic or degenerative conditions affecting the CNS, RDD is a benign, non-infective, granulomatous disorder...
May 22, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28531329/alternative-stable-conformation-capable-of-protein-misinteraction-links-trna-synthetase-to-peripheral-neuropathy
#12
David Blocquel, Sheng Li, Na Wei, Herwin Daub, Mathew Sajish, Maria-Luise Erfurth, Grace Kooi, Jiadong Zhou, Ge Bai, Paul Schimmel, Albena Jordanova, Xiang-Lei Yang
While having multiple aminoacyl-tRNA synthetases implicated in Charcot-Marie-Tooth (CMT) disease suggests a common mechanism, a defect in enzymatic activity is not shared among the CMT-causing mutants. Protein misfolding is a common hypothesis underlying the development of many neurological diseases. Its process usually involves an initial reduction in protein stability and then the subsequent oligomerization and aggregation. Here, we study the structural effect of three CMT-causing mutations in tyrosyl-tRNA synthetase (TyrRS or YARS)...
May 22, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28530263/utricular-hypofunction-in-patients-with-type-2-diabetes-mellitus
#13
K Jáuregui-Renaud, C Aranda-Moreno, A Herrera-Rangel
The aim of this study was to assess the function of the utricle and horizontal semicircular canals in patients with type 2 diabetes mellitus receiving primary health care, with/without a history of falls. 101 patients with type 2 diabetes mellitus, 34 to 84 years old (26 with and 75 without a history of falls) and 51 healthy volunteers (40-83 years old) accepted to participate. They denied having a history of dizziness, vertigo, unsteadiness, hearing loss or neurological disorders. None of them were seeking care due to sensory or balance decline...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28528966/nampt-inhibitor-protects-ischemic-neuronal-injury-in-rat-brain-via-anti-neuroinflammation
#14
Chen-Xiang Chen, Jing Huang, Ga-Qi Tu, Jia-Tong Lu, Xian Xie, Bing Zhao, Ming Wu, Qiao-Juan Shi, San-Hua Fang, Er-Qing Wei, Wei-Ping Zhang, Yun-Bi Lu
Nicotinamide phosphoribosyltransferase (NAMPT) is an important neuroprotective factor in cerebral ischemia, and it has been reported that NAMPT inhibitors can aggravate neuronal injury in the acute phase. However, because it is a cytokine, NAMPT participates in many inflammatory diseases in the peripheral system, and its inhibitors have therapeutic effects. Following cerebral ischemia, the peripheral and resident inflammatory and immune cells produce many pro-inflammatory mediators in the ischemic area, which induce neuroinflammation and impair the brain...
May 18, 2017: Neuroscience
https://www.readbyqxmd.com/read/28527757/comparative-analysis-of-peri-operative-complications-between-a-multicenter-prospective-cervical-deformity-database-and-the-nationwide-inpatient-sample-database
#15
Peter G Passias, Samantha R Horn, Cyrus M Jalai, Gregory Poorman, Olivia J Bono, Subaraman Ramchandran, Justin S Smith, Justin K Scheer, Daniel M Sciubba, D Kojo Hamilton, Gregory Mundis, Cheongeun Oh, Eric O Klineberg, Virginie Lafage, Christopher I Shaffrey, Christopher P Ames
BACKGROUND CONTEXT: Complication rates for adult cervical deformity are poorly characterized given the complexity and heterogeneity of cases. PURPOSE: To compare peri-operative complication rates following adult cervical deformity corrective surgery between a prospective multi-center database for cervical deformity patients (PCD) and Nationwide Inpatient Sample (NIS). STUDY DESIGN/SETTING: Retrospective review of prospective databases. PATIENT SAMPLE: 11,501 adult cervical deformity patients (11,379 patients from NIS and 122 patients from PCD database)...
May 17, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28526927/sodium-thiosulphate-attenuates-brain-inflammation-induced-by-systemic-lipopolysaccharide-administration-in-c57bl-6j-mice
#16
Gonzalo Acero, Miryam Nava Catorce, Ricardo González-Mendoza, Marco Antonio Meraz-Rodríguez, Luis Fernando Hernández-Zimbron, Roberto González-Salinas, Goar Gevorkian
It has been demonstrated that peripheral infections accompanied by neuroinflammation may modify brain development or affect normal brain aging and represent major risk factors for the development of neurological disorders. A wide range of synthetic and natural compounds with anti-inflammatory properties have been evaluated in animal models of neuroinflammation and neurodegeneration as an adjuvant therapeutic strategy. In the present study we have demonstrated for the first time that sodium thiosulphate (STS), a known antidote approved for treatment of certain medical conditions, is capable of reducing brain inflammation caused by systemic LPS administration...
May 19, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28526435/the-bidirectional-gut-brain-microbiota-axis-as-a-potential-nexus-between-traumatic-brain-injury-inflammation-and-disease
#17
Mark H Sundman, Nan-Kuei Chen, Vignesh Subbian, Ying-Hui Chou
As head injuries and their sequelae have become an increasingly salient matter of public health, experts in the field have made great progress elucidating the biological processes occurring within the brain at the moment of injury and throughout the recovery thereafter. Given the extraordinary rate at which our collective knowledge of neurotrauma has grown, new insights may be revealed by examining the existing literature across disciplines with a new perspective. This article will aim to expand the scope of this rapidly evolving field of research beyond the confines of the central nervous system (CNS)...
May 16, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28521032/a-neglected-cause-of-iatrogenic-brachial-plexus-injuries-in-psychiatric-patients
#18
José Fernando Guedes-Corrêa, Maristella Reis da Costa Pereira, Francisco José Lourenço Torrão-Junior, José Vicente Martins, Daniel Alves Neiva Barbosa
BACKGROUND: Psychiatric patients are often kept immobilized during hospitalization to avoid self-inflicted injuries and danger to third parties. Inadequate positioning can lead to brachial plexus injuries (BPI). OBJECTIVE: To present a series of 5 psychiatric patients with BPI after being left sedated and restrained for prolonged periods of time during hospitalization. METHODS: We retrospectively reviewed the charts of 5 psychiatric patients with iatrogenic BPI referred by other institutions to our service...
May 18, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28519900/type-i-interferon-pathway-in-cns-homeostasis-and-neurological-disorders
#19
REVIEW
Thomas Blank, Marco Prinz
Type I interferons (IFNs), IFN-α and IFN-β, represent the major effector cytokines of the host immune response against viruses and other intracellular pathogens. These cytokines are produced via activation of numerous pattern recognition receptors, including the Toll-like receptor signaling network, retinoic acid-inducible gene-1 (RIG-1), melanoma differentiation-associated protein-5 (MDA-5) and interferon gamma-inducible protein-16 (IFI-16). Whilst the contribution of type I IFNs to peripheral immunity is well documented, they can also be produced by almost every cell in the central nervous system (CNS)...
May 18, 2017: Glia
https://www.readbyqxmd.com/read/28517732/t-cells-and-macrophages-peak-weeks-after-experimental-stroke-spatial-and-temporal-characteristics
#20
Nina Vindegaard, Clara Muñoz-Briones, Henrik H El Ali, Lotte Kellemann Kristensen, Rune Skovgaard Rasmussen, Flemming Fryd Johansen, Henrik Hasseldam
The activities of the central and peripheral immune systems impact neurological outcome after ischemic stroke. However, studies investigating the temporal profile of leukocyte infiltration, especially T-cell recruitment, are sparse. Our aim was to investigate leukocyte infiltration at different time points after experimental stroke in mice. Permanent middle cerebral artery occlusion was performed on 11 weeks old C57BL/6J mice, allowed to survive for 1, 3, 8, 14 or 28 days. In addition to infarct size measurements, detailed immunohistochemical analyses of T-cell and macrophage influx were performed...
May 18, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
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