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https://www.readbyqxmd.com/read/28641335/jumping-mechanography-as-a-complementary-testing-tool-for-motor-function-in-children-with-hereditary-motor-and-sensory-neuropathy
#1
Katharina Vill, Lena Ille, Astrid Blaschek, Rainer Rawer, Mirjam N Landgraf, Lucia Gerstl, Sebastian A Schroeder, Wolfgang Müller-Felber
No abstract text is available yet for this article.
June 22, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28640813/identification-of-a-sj%C3%A3-gren-s-syndrome-susceptibility-locus-at-oas1-that-influences-isoform-switching-protein-expression-and-responsiveness-to-type-i-interferons
#2
He Li, Tove Ragna Reksten, John A Ice, Jennifer A Kelly, Indra Adrianto, Astrid Rasmussen, Shaofeng Wang, Bo He, Kiely M Grundahl, Stuart B Glenn, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Deborah S Cunninghame Graham, Ketan Patel, Adam J Adler, A Darise Farris, Michael T Brennan, James Chodosh, Rajaram Gopalakrishnan, Michael H Weisman, Swamy Venuturupalli, Daniel J Wallace, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Evan S Vista, Contessa E Edgar, Michael D Rohrer, Donald U Stone, Timothy J Vyse, John B Harley, Patrick M Gaffney, Judith A James, Sean Turner, Ilias Alevizos, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, Courtney G Montgomery, R Hal Scofield, Susan Kovats, Xavier Mariette, Lars Rönnblom, Torsten Witte, Maureen Rischmueller, Marie Wahren-Herlenius, Roald Omdal, Roland Jonsson, Wan-Fai Ng, Gunnel Nordmark, Christopher J Lessard, Kathy L Sivils
Sjögren's syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study...
June 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28637119/disco-vertebral-osteomyelitis-causing-intradural-spinal-abscess-with-cauda-equina-compression
#3
Anan Shtaya, Samantha Hettige
Intradural extramedullary spinal infections causing cauda equina compression are uncommon. We report an Escherichia coli bacteraemia causing lumbar discitis and an intracanalicular collection compressing the cauda equina: initially thought to be an epidural empyema, however microsurgery revealed an intradural location. Decompression, drainage, antibiotics, and neuropathy treatment are essential management.
March 3, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28636650/the-formation-of-lipid-droplets-favors-intracellular-mycobacterium-leprae-survival-in-sw-10-non-myelinating-schwann-cells
#4
Song-Hyo Jin, Sung-Kwan An, Seong-Beom Lee
Leprosy is a chronic infectious disease that is caused by the obligate intracellular pathogen Mycobacterium leprae (M.leprae), which is the leading cause of all non-traumatic peripheral neuropathies worldwide. Although both myelinating and non-myelinating Schwann cells are infected by M.leprae in patients with lepromatous leprosy, M.leprae preferentially invades the non-myelinating Schwann cells. However, the effect of M.leprae infection on non-myelinating Schwann cells has not been elucidated. Lipid droplets (LDs) are found in M...
June 21, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28636612/laminin-211-inhibits-protein-kinase-a-in-schwann-cells-to-modulate-neuregulin-1-type-iii-driven-myelination
#5
Monica Ghidinelli, Yannick Poitelon, Yoon Kyoung Shin, Dominique Ameroso, Courtney Williamson, Cinzia Ferri, Marta Pellegatta, Kevin Espino, Amit Mogha, Kelly Monk, Paola Podini, Carla Taveggia, Klaus-Armin Nave, Lawrence Wrabetz, Hwan Tae Park, Maria Laura Feltri
Myelin is required for proper nervous system function. Schwann cells in developing nerves depend on extrinsic signals from the axon and from the extracellular matrix to first sort and ensheathe a single axon and then myelinate it. Neuregulin 1 type III (Nrg1III) and laminin α2β1γ1 (Lm211) are the key axonal and matrix signals, respectively, but how their signaling is integrated and if each molecule controls both axonal sorting and myelination is unclear. Here, we use a series of epistasis experiments to show that Lm211 modulates neuregulin signaling to ensure the correct timing and amount of myelination...
June 2017: PLoS Biology
https://www.readbyqxmd.com/read/28635977/chemotherapy-induced-peripheral-neuropathy-assessment-tools-a-systematic-review
#6
Haryani Haryani, Susan Jane Fetzer, Ching-Lin Wu, Yu-Yun Hsu
PROBLEM IDENTIFICATION: Chemotherapy-induced peripheral neuropathy (CIPN) is a dose-limiting chemotherapy toxicity, which has a long-lasting effect and decreases quality of life. Although several tools have been developed to detect CIPN, the study quality, psychometric properties, and practicality of CIPN assessment tools have not been systematically reviewed.
. LITERATURE SEARCH: Electronic searches using keywords were conducted in Medline, PubMed, CINAHL®, and Cochrane Library for articles published from 1980-2015...
May 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28634852/incidence-of-prolonged-qtc-and-severe-hypoglycemia-in-type-1-diabetes-the-eurodiab-prospective-complications-study
#7
Cristina Amione, Sara Giunti, Paolo Fornengo, Sabita S Soedamah-Muthu, Nish Chaturvedi, J H Fuller, Federica Barutta, Gabriella Gruden, Graziella Bruno
AIMS: To assess the independent role of severe hypoglycemia on 7-year cumulative incidence of prolonged QTc in a large cohort of patients with type 1 diabetes. METHODS: People with type 1 diabetes recruited by the EURODIAB Prospective Complications Study who had normal QTc were examined at baseline and after 7 years with standardized methods (n = 1415; mean age ± SD 32.1 ± 9.6 years; diabetes duration 14.2 ± 8.8 years). Hypoglycemic episodes were assessed by a questionnaire...
June 20, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28634676/evaluation-of-the-psychometric-properties-of-the-eortc-chemotherapy-induced-peripheral-neuropathy-questionnaire-qlq-cipn20
#8
Jacobien M Kieffer, Tjeerd J Postma, Lonneke van de Poll-Franse, Floortje Mols, Jan J Heimans, Guido Cavaletti, Neil K Aaronson
PURPOSE: To investigate the scale structure and psychometrics of the EORTC chemotherapy-induced peripheral neuropathy module (QLQ-CIPN20). METHODS: Using confirmatory factor analyses (CFA), we tested two hypothesized scale structure models of the QLQ-CIPN20 in 473 patients with non-small cell lung cancer, 281 patients with heterogeneous cancer diagnoses, and 500 patients with colorectal cancer. We also modeled the two hypothesized models as bi-factor models. These included a general factor, in addition to the specific domain factors...
June 20, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28634656/patient-reported-eortc-qlq-cipn20-versus-physician-reported-ctcae-quantification-of-oxaliplatin-and-paclitaxel-carboplatin-induced-peripheral-neuropathy-in-ncctg-alliance-clinical-trials
#9
Jennifer Le-Rademacher, Rahul Kanwar, Drew Seisler, Deirdre R Pachman, Rui Qin, Alexej Abyzov, Kathryn J Ruddy, Michaela S Banck, Ellen M Lavoie Smith, Susan G Dorsey, Neil K Aaronson, Jeff Sloan, Charles L Loprinzi, Andreas S Beutler
PURPOSE: Clinical practice guidelines on chemotherapy-induced peripheral neuropathy (CIPN) use the NCI Common Terminology Criteria for Adverse Events (CTCAE), while recent clinical trials employ a potentially superior measure, the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-CIPN twenty-item scale (QLQ-CIPN20), a patient-reported outcome (PRO). Practitioners and researchers lack guidance, regarding how QLQ-CIPN20 results relate to the traditional CTCAE during the serial assessment of patients undergoing chemotherapy...
June 20, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28634514/cystic-lesions-of-peripheral-nerves-are-we-missing-the-diagnosis-of-the-intraneural-ganglion-cyst
#10
Jyoti Panwar, Anil Mathew, Binu P Thomas
AIM: To highlight the salient magnetic resonance imaging (MRI) features of the intraneural ganglion cyst (INGC) of various peripheral nerves for their precise diagnosis and to differentiate them from other intra and extra-neural cystic lesions. METHODS: A retrospective analysis of the magnetic resonance (MR) images of a cohort of 245 patients presenting with nerve palsy involving different peripheral nerves was done. MR images were analyzed for the presence of a nerve lesion, and if found, it was further characterized as solid or cystic...
May 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28633926/synergic-stimulation-of-serotonin-5-ht1a-receptor-and-%C3%AE-2-adrenoceptors-for-neuropathic-pain-relief-preclinical-effects-of-2-substituted-imidazoline-derivatives
#11
Lorenzo Di Cesare Mannelli, Carla Ghelardini, Laura Micheli, Fabio Del Bello, Mario Giannella, Alessandro Piergentili, Wilma Quaglia
Neuropathic pain affects millions of people causing disability and impairing quality of life. Commonly used analgesics are generally characterized by limited therapeutic outcomes. The serotonin 5-HT1A receptor and the α2 adrenergic receptors are involved in central nociceptive mechanisms with a pivotal role in the inhibitory descending pain pathway. Since their stimulation may modulate the nervous signaling altered by neuropathies, the purpose of the present research is the study of the combined activation of 5-HT1A and α2 receptors by rationally designed imidazoline ligands ((S)-1 and 2-5) in a rat model of neuropathic pain (chronic constriction injury - CCI)...
June 17, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28633782/factors-predicting-length-of-hospital-stay-and-extended-care-facility-admission-after-hindfoot-arthrodesis-procedures
#12
Jacob Deister, Brian G Cothern, Chad Williams, Andrew W Froehle, Richard T Laughlin
Delayed identification of patients requiring admission to extended care facilities (ECFs) can lead to greater healthcare costs through an increased length of hospital stay (LOHS). Previous studies of hip and knee arthroplasty identified factors associated with a likely discharge to an ECF. These issues have not been extensively studied for major hindfoot procedures. We conducted a retrospective review of 198 cases treated during a 3-year period to identify the risk factors for an extended LOHS and ECF admission after ankle arthrodesis, triple arthrodesis, pantalar arthrodesis, and subtalar arthrodesis...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633615/experts-opinion-on-manual-wheelchair-adjustments-for-adults-with-diabetes
#13
Sophie-Anne Scherrer, Joelle Chu Yu Chee, Nhi Vu, Patrice Lu, Michelle Ishack, Philippe S Archambault
Diabetes is a global health concern that can lead to mobility limitations necessitating a wheelchair. However, there are currently no guidelines for wheelchair adjustments tailored to the diabetic population. PURPOSE: To describe relevant manual wheelchair adjustments for adults with diabetes, and to explore how these adjustments apply to populations living in less-resourced countries. METHODS: Semi-structured interviews were conducted with 13 wheelchair experts from five different countries working with adult with diabetes...
March 2, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#14
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28633377/emerging-mechanisms-of-aminoacyl-trna-synthetase-mutations-in-recessive-and-dominant-human-disease
#15
Rebecca Meyer-Schuman, Anthony Antonellis
Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate tRNA molecules, which is the essential first step of protein translation. Interestingly, mutations in genes encoding ARS enzymes have been implicated in a broad spectrum of human inherited diseases. Bi-allelic mutations in ARSs typically cause severe, early-onset, recessive diseases that affect a wide range of tissues. The vast majority of these mutations show loss-of-function effects and impair protein translation. However, it is not clear how a subset cause tissue-specific phenotypes...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28633123/severe-but-reversible-neuropathy-and-encephalopathy-due-to-vitamin-e-deficiency
#16
Barbara Wysota, Sophia Michael, Fu Liong Hiew, Charlotte Dawson, Yusuf A Rajabally
No abstract text is available yet for this article.
June 8, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28633089/first-line-panitumumab-plus-folfox4-or-folfiri-in-colorectal-cancer-with-multiple-or-unresectable-liver-metastases-a-randomised-phase-ii-trial-planet-ttd
#17
Alfredo Carrato, Albert Abad, Bartomeu Massuti, Cristina Grávalos, Pilar Escudero, Federico Longo-Muñoz, José-Luis Manzano, Auxiliadora Gómez, María José Safont, Javier Gallego, Beatriz García-Paredes, Carles Pericay, Rosario Dueñas, Fernando Rivera, Ferrán Losa, Manuel Valladares-Ayerbes, Encarnación González, Enrique Aranda
BACKGROUND: In first-line wild-type (WT)-Kirsten rat sarcoma viral oncogene homologue (KRAS) metastatic colorectal cancer (mCRC), panitumumab (Pmab) improves outcomes when added to FOLFOX [folinic acid, 5-fluorouracil, and oxaliplatin] or FOLFIRI [folinic acid, 5-fluorouracil, and irinotecan]. However no trial has directly compared these combinations. METHODS: Multicentre, open-label study in untreated patients ≥ 18 years with (WT)-KRAS mCRC and multiple or unresectable liver-limited disease (LLD) randomised to either Pmab-FOLFOX4 or Pmab-FOLFIRI...
June 17, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28633005/autophagy-impairment-mediated-by-s-nitrosation-of-atg4b-leads-to-neurotoxicity-in-response-to-hyperglycemia
#18
Yazi Li, Yuying Zhang, Lei Wang, Ping Wang, Yanhong Xue, Xiaopeng Li, Xinhua Qiao, Xu Zhang, Tao Xu, Guanghui Liu, Peng Li, Chang Chen
The majority of diabetic patients develop neuropathy and there is an increasing prevalence of neurodegeneration in the central nervous system (CNS). However, the mechanism behind is poorly understood. Here we first observed that macroautophagy/autophagy was suppressed in the hippocampus of diabetic GK rats with hyperglycemia, whereas it was unchanged in ob/ob mice without hyperglycemia. Autophagy could be directly inhibited by high glucose in mouse primary hippocampal neurons. Moreover, autophagy was protective in high-glucose-induced neurotoxicity...
June 20, 2017: Autophagy
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#19
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steve Scherer, David N Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E Shy, Mary M Reilly
INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However there are no prospective randomized studies on surgical management, and there is variation in the approache between centers in the same country and between different countries. METHODS: We assessed the frequency of foot deformities and surgery among patients recruited to the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28632471/lenalidomide-as-a-treatment-for-relapsed-al-amyloidosis-in-an-hiv-positive-patient
#20
Johanna Denman, Kaveh Manavi, Mark Cook
We present a case of an HIV-positive man with systemic immunoglobulin light chain (AL) amyloid with cardiac involvement. At relapse, he was treated with lenalidomide and dexamethasone having previously developed autonomic neuropathy with bortezomib-based chemotherapy. The patient achieved a serological complete response with symptomatic improvement. After 11 cycles, lenalidomide was discontinued due to extensive ischaemia of the gastrointestinal tract. The patient remains symptomatically stable with normal levels of serum-free light chains 11 months after the treatment was discontinued...
January 1, 2017: International Journal of STD & AIDS
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