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https://www.readbyqxmd.com/read/30554264/nerve-echogenicity-and-intranerve-csa-variability-in-high-resolution-nerve-ultrasound-hrus-in-chronic-inflammatory-demyelinating-polyneuropathy-cidp
#1
Anna Lena Fisse, Kalliopi Pitarokoili, Jeremias Motte, Donata Gamber, Antonios Kerasnoudis, Ralf Gold, Min-Suk Yoon
OBJECTIVE: HRUS is increasingly being used in the diagnosis and evaluation of autoimmune neuropathies such as CIDP. Recently, studies focused not only on changes of nerves size, but also the fascicular structure and the echogenicity changes in CIDP. However, little is known about the alterations of echogenicity in the long-term course in CIDP. The aim of this study was to evaluate echogenicity in CIDP patients in a long-term follow-up period and to analyze the benefit of the evaluation of echogenicity compared to nerve size...
December 15, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/30553167/cerebrospinal-fluid-biomarkers-link-toxic-astrogliosis-and-microglial-activation-to-multiple-sclerosis-severity
#2
Ruturaj Masvekar, Tianxia Wu, Peter Kosa, Christopher Barbour, Valentina Fossati, Bibiana Bielekova
BACKGROUND: Once multiple sclerosis (MS) reaches the progressive stage, immunomodulatory treatments have limited efficacy. This suggests that processes other than activation of innate immunity may at least partially underlie disability progression during late stages of MS. Pathology identified these alternative processes as aberrant activation of astrocytes and microglia, and subsequent degeneration of oligodendrocytes and neurons. However, we mostly lack biomarkers that could measure central nervous system (CNS) cell-specific intrathecal processes in living subjects...
December 5, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/30552897/identification-of-a-circulating-mirna-signature-in-extracellular-vesicles-collected-from-amyotrophic-lateral-sclerosis-patients
#3
Daniel Saucier, Gabriel Wajnberg, Jeremy Roy, Annie-Pier Beauregard, Simi Chacko, Nicolas Crapoulet, Sébastien Fournier, Anirban Ghosh, Stephen M Lewis, Alier Marrero, Colleen O'Connell, Rodney J Ouellette, Pier Jr Morin
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated with the progressive death of motor neurons. Mean survival for a patient diagnosed with ALS is between 2 to 5 years. Early and efficient diagnosis of the various forms of ALS remains a significant challenge, resulting in a need to identify clinically-relevant biomarkers in readily accessible body fluids. microRNAs (miRNAs) are short, evolutionarily conserved non-coding RNA molecules involved in post-transcriptional regulation of gene expression that have received interest as disease biomarkers...
December 12, 2018: Brain Research
https://www.readbyqxmd.com/read/30552719/genetically-engineered-animal-models-of-parkinson-s-disease-from-worm-to-rodent
#4
Ludivine S Breger, Marie T Fuzzati Armentero
Parkinson's disease (PD) is a progressive neurological disorder characterised by aberrant accumulation of insoluble proteins, including alpha-synuclein, and a loss of dopaminergic neurons in the substantia nigra. The extended neurodegeneration leads to a drop of striatal dopamine levels, responsible for disabling motor and non-motor impairments. Although the causes of the disease remain unclear, it is well accepted among the scientific community that the disorder may also have a genetic component. For that reason, the number of genetically engineered animal models has greatly increased over the past two decades, ranging from invertebrates to more complex organisms such as mice and rats...
December 14, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/30550933/tlr4-absence-reduces-neuroinflammation-and-inflammasome-activation-in-parkinson-s-diseases-in-vivo-model
#5
Michela Campolo, Irene Paterniti, Rosalba Siracusa, Alessia Filippone, Emanuela Esposito, Salvatore Cuzzocrea
Parkinson's disease (PD) is a progressive, disabling neurodegenerative disorder. It has been shown Toll like receptor (TLR) 4-deficient mice protect against MPTP toxicity, suggesting that dopaminergic cell death is TLR4-dependent. The aim of this study was to demonstrate, in an in vivo model of PD, how TLR4 plays its important role in the pathogenesis of PD by using MPTP neurotoxin model (4 × 20 mg/kg, 2 hr apart, i.p). Our experiments have demonstrated that the absence of TLR4 prevented dopamine depletion, increased tyrosine hydroxylase and dopamine transporter activities and reduced the number of α-synuclein-positive neurons...
December 11, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/30550569/economic-impact-of-dengue-in-mexico-considering-reported-cases-for-2012-to-2016
#6
Adriana Zubieta-Zavala, Malaquias López-Cervantes, Guillermo Salinas-Escudero, Adrian Ramírez-Chávez, José Ramos Castañeda, Sendy Isarel Hernández-Gaytán, Juan Guillermo López Yescas, Luis Durán-Arenas
BACKGROUND: Given that dengue disease is growing and may progress to dengue hemorrhagic fever (DHF), data on economic cost and disease burden are important. However, data for Mexico are limited. METHODOLOGY/PRINCIPAL FINDINGS: Burden of dengue fever (DF) and DHF in Mexico was assessed using official databases for epidemiological information, disabilities weights from Shepard et al, the reported number of cases and deaths, and costs. Overall costs of dengue were summed from direct medical costs to the health system, cost of dengue to the patient (out-of-pocket expenses [medical and non-medical], indirect costs [loss of earnings, patient and/or caregiver]), and other government expenditures on prevention/surveillance...
December 14, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/30550402/what-is-the-prevalence-of-cam-deformity-after-prophylactic-pinning-of-the-contralateral-asymptomatic-hip-in-unilateral-slipped-capital-femoral-epiphysis-a-10-year-minimum-followup-study
#7
Till D Lerch, Eduardo N Novais, Florian Schmaranzer, Kai Ziebarth, Simon D Steppacher, Moritz Tannast, Klaus A Siebenrock
BACKGROUND: Prophylactic pinning of the asymptomatic and normal-appearing contralateral hip in patients with unilateral slipped capital femoral epiphysis (SCFE) remains controversial. Understanding the minimal 10-year clinical, functional, and radiographic outcomes of the contralateral asymptomatic hip in unilateral SCFE may be helpful in the decision regarding whether the benefits associated with potentially preventing a SCFE are outweighed by the risk of additional surgery. QUESTIONS/PURPOSES: Among patients with SCFE treated with prophylactic pinning of the asymptomatic and contralateral hip, we sought (1) to determine the complications and reoperations; (2) to evaluate the development of cam deformities and the frequency and severity of osteoarthritis progression; and (3) to characterize hip pain and function as measured by the Harris hip score (HHS) and the Hip Disability and Osteoarthritis Outcome Score (HOOS) at minimal 10-year followup...
December 13, 2018: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/30550246/rehabilitation-in-systemic-sclerosis-proposed-personalised-rehabilitation-programme
#8
Elvira Brignoli, Paolo Frassanito, Elisabetta Vercesi, Chiara Ferretti, Guido Felicetti, Roberto Maestri, Maja Barak
OBJECTIVES: Systemic sclerosis is a multisystem autoimmune disease that causes chronic widespread obliterative vasculopathy of the small arteries associated with various degrees of tissue fibrosis. The prognosis of the disease depends largely on the visceral involvement; however musculoskeletal involvement is an important factor to functional disability. Suffering from a chronic auto-immune disease, such as Systemic Sclerosis, compromises the quality of life and the work ability. The rehabilitative treatment may be a viable option for improving the quality of life, but there are few studies to support this hypothesis in adequate population...
December 2018: Giornale Italiano di Medicina del Lavoro Ed Ergonomia
https://www.readbyqxmd.com/read/30549396/the-progression-of-wiedemann-steiner-syndrome-in-adulthood-and-two-novel-variants-in-the-kmt2a-gene
#9
Hailey R Feldman, Stephen R Dlouhy, Melissa D Lah, Katelyn K Payne, David D Weaver
Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann-Steiner syndrome, one of whom is in her third decade of life...
December 14, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30548255/a-study-in-a-polish-ataxia-cohort-indicates-genetic-heterogeneity-and-points-to-mtcl1-as-a-novel-candidate-gene
#10
Magdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, Victor Murcia Pienkowski, Natalia Krawczyńska, Daniel Zielonka, Joanna Kosińska, Piotr Stawinski, Monika Rudzińska-Bar, Magdalena Boczarska-Jedynak, Bartosz Karaszewski, Janusz Limon, Jarosław Sławek, Rafał Płoski, Małgorzata Rydzanicz
Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia...
December 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30544463/nocardial-spinal-epidural-abscess-with-lumbar-disc-herniation-a-case-report-and-review-of-literature
#11
Fei Ma, Min Kang, Ye Hui Liao, Guang Zhou Lee, Qiang Tang, Chao Tang, Yin Huan Ding, De Jun Zhong
RATIONALE: Nocardial spinal epidural abscess is rare. The diagnosis is often difficult to make and, if delayed, poses a high risk of long-term disability. Nocardial spinal epidural abscess with severe lumbar disc herniation has not previously been reported. PATIENT CONCERNS: A 50-year-old man presented with progressive lumbago and leg pain for 6 weeks after receiving acupuncture therapy, and then the patient suddenly occurred urine retention after walking. DIAGNOSES: Clinical examination revealed sign of cauda equina syndrome...
December 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30543933/the-involvement-of-epigenetics-in-vascular-disease-development
#12
Leonardo Elia, Gianluigi Condorelli
Cardiovascular diseases are a major cause of death and disability. Despite enormous progress in diagnosis, prevention, and treatment over the years, the incidence of this group of pathologies continues to increase worldwide. An important step in reversing this situation is filling in the gaps we have in our understanding of cardiovascular homeostasis and of the pathogenic processes leading to disease. On this point, the discovery of epigenetics - heritable chemical modifications of DNA bases and histone proteins, as well as non-coding RNA-based mechanisms regulating gene expression - has opened up new vistas...
December 10, 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/30543885/mir-93-functions-as-a-tumor-promoter-in-prostate-cancer-by-targeting-disabled-homolog-2-dab2-and-an-antitumor-polysaccharide-from-green-tea-camellia-sinensis-on-their-expression
#13
Ke Yang, Yuan-Wei Li, Zhi-Yong Gao, Wei Xiao, Tie-Qiu Li, Wei Song, Jue Zheng, Hao Chen, Gui-Heng Chen, Hao-Yu Zou
Our previous work has demonstrated that the role of miR-93 in prostate cancer (PC) progression. The aim of this study was to determine the downstream gene regulated by miR-93 and the molecular mechanisms underlying its roles in PC. Bioinformatics analysis and luciferase reporter assays predicted disabled homolog 2 (DAB2) as a direct target gene of miR-93. Real time quantitative polymerase chain reaction (qRT-PCR) and Western blot analysis revealed that DAB2 was tumor repressor in PC cells, and its mRNA expression was negatively correlated with miR-93 in PC tissues...
December 10, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/30542205/atypical-cerebral-palsy-genomics-analysis-enables-precision-medicine
#14
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Magda Price, Katherine Selby, Michelle Demos, Mary Connolly, Britt Drögemoller, Casper Shyr, Jill Mwenifumbo, Alison M Elliott, Jessica Lee, Aisha Ghani, Sylvia Stöckler, Ramona Salvarinova, Hilary Vallance, Graham Sinclair, Colin J Ross, Wyeth W Wasserman, Margaret L McKinnon, Gabriella A Horvath, Helly Goez, Clara D van Karnebeek
PURPOSE: The presentation and etiology of cerebral palsy (CP) are heterogeneous. Diagnostic evaluation can be a prolonged and expensive process that might remain inconclusive. This study aimed to determine the diagnostic yield and impact on management of next-generation sequencing (NGS) in 50 individuals with atypical CP (ACP). METHODS: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following: severe intellectual disability, progressive neurological deterioration, other abnormalities on neurological examination, multiorgan disease, congenital anomalies outside of the central nervous system, an abnormal neurotransmitter profile, family history, brain imaging findings not typical for cerebral palsy...
December 13, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30539030/safety-and-efficacy-of-rituximab-in-multiple-sclerosis-a-retrospective-observational-study
#15
Bassem I Yamout, Nabil K El-Ayoubi, Johny Nicolas, Yehya El Kouzi, Samia J Khoury, Maya M Zeineddine
Objective: To evaluate the efficacy and safety of rituximab in multiple sclerosis in a clinical practice setting. Methods: Clinical data for all adult patients with multiple sclerosis (MS) treated with off-label rituximab at a single MS center in Lebanon between March 2008 and April 2017 were retrospectively collected from medical charts. The main efficacy outcomes assessed were annualized relapse rate (ARR) and proportion of patients free from relapses, disability progression, or magnetic resonance imaging (MRI) activity...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/30538910/a-comparison-of-prompt-delays-with-trial-and-error-instruction-in-conditional-discrimination-training
#16
Sean J O'Neill, Claire McDowell, Julian C Leslie
Many prompting procedures exist for teaching skills to individuals with autism spectrum disorder and intellectual disability; however, direct comparisons between variations of prompt delay are rarely made. Here, we compared three variations of prompt delay (2-s or 5-s constant delay and 5-s progressive delay) alongside trial-and-error instruction. Four learners were taught a conditional discrimination task using a match-to-sample arrangement. Performances were compared using effectiveness and efficiency measures in an adapted alternating treatments design...
December 31, 2018: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/30538138/prospective-phase-ii-clinical-trial-of-autologous-haematopoietic-stem-cell-transplant-for-treatment-refractory-multiple-sclerosis
#17
John J Moore, Jennifer C Massey, Carole D Ford, Melissa L Khoo, John J Zaunders, Kevin Hendrawan, Yael Barnett, Michael H Barnett, Kain A Kyle, Robert Zivadinov, Kris C Ma, Sam T Milliken, Ian J Sutton, David D F Ma
BACKGROUND: Autologous haematopoietic stem cell transplantation (AHSCT) has been explored as a therapeutic intervention in multiple sclerosis (MS) over the last two decades; however, prospective clinical trials of the most common myeloablative conditioning regimen, BEAM, are limited. Furthermore, patient selection, optimal chemotherapeutic regimen and immunological changes associated with disease response require ongoing exploration. We present the outcomes, safety and immune reconstitution (IR) of patients with active, treatment refractory MS...
December 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30536108/gait-festination-in-parkinsonism-introduction-of-two-phenotypes
#18
Jorik Nonnekes, Nir Giladi, Anasuya Guha, Urban M Fietzek, Bastiaan R Bloem, Evžen Růžička
Gait festination is one of the most characteristic gait disturbances in patients with Parkinson's disease or atypical parkinsonism. Although festination is common and disabling, it has received little attention in the literature, and different definitions exist. Here, we argue that there are actually two phenotypes of festination. The first phenotype entails a primary locomotion disturbance, due to the so-called sequence effect: a progressive shortening of step length, accompanied by a compensatory increase in cadence...
December 7, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/30535670/assessment-of-clinically-meaningful-improvements-in-self-reported-walking-ability-in-participants-with-multiple-sclerosis-results-from-the-randomized-double-blind-phase-iii-enhance-trial-of-prolonged-release-fampridine
#19
Jeremy Hobart, Tjalf Ziemssen, Peter Feys, Michael Linnebank, Andrew D Goodman, Rachel Farrell, Raymond Hupperts, Andrew R Blight, Veronica Englishby, Manjit McNeill, Ih Chang, Gabriel Lima, Jacob Elkins
BACKGROUND: Walking impairment is a hallmark of multiple sclerosis (MS). It affects > 90% of individuals over time, reducing independence and negatively impacting health-related quality of life, productivity, and daily activities. Walking impairment is consistently reported as one of the most distressing impairments by individuals with MS. Prolonged-release (PR)-fampridine previously has been shown to improve objectively measured walking speed in walking-impaired adults with MS...
December 10, 2018: CNS Drugs
https://www.readbyqxmd.com/read/30535170/progression-of-myelopathy-in-males-with-adrenoleukodystrophy-towards-clinical-trial-readiness
#20
Irene C Huffnagel, Wouter J C van Ballegoij, Björn M van Geel, Johanna M B W Vos, Stephan Kemp, Marc Engelen
Males with adrenoleukodystrophy develop progressive myelopathy causing severe disability later in life. No treatment is currently available, but new disease-modifying therapies are under development. Knowledge of the natural history of the myelopathy is of paramount importance for evaluation of these therapies in clinical trials, but prospective data on disease progression are lacking. We performed a prospective observational cohort study to quantify disease progression over 2 years of follow-up. Signs and symptoms, functional outcome measures and patient-reported outcomes were assessed at baseline, 1 and 2 years of follow-up...
December 7, 2018: Brain: a Journal of Neurology
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