Mercedes Chiesa, Rodrigo Decima, Andrés Bertinat, Luciana Poggi, Heber Hackembruch, Cecilia Montenegro, Hector Chiparelli, Cristina Vázquez
BACKGROUND AND AIMS: Guillain-Barre syndrome (GBS) is an acute autoimmune peripheral inflammatory neuropathy and the most frequent cause of non-poliovirus acute flaccid paralysis worldwide. Background annual GBS incidence rates (IRs) in Latin America (LA) varies from 0.40 to 2.12/100,000 persons per year. We performed a prospective population-based epidemiological study to determine the incidence and clinical profile of GBS in the most densely populated regions in Uruguay. METHODS: The incidence of GBS in the population living in Montevideo and Canelones was studied in the period between June 1st 2018, and May 31st 2020...
May 4, 2021: Journal of the Peripheral Nervous System: JPNS
Shengnan Cheng, Yueqi Yu, Yayan You, Jin Chen, Xiaohuan Pi, Xinghua Wang, Fagang Jiang
PURPOSE: To determine the prognostic value of optical coherence tomography (OCT) measurement of the peripapillary retinal nerve fiber layer (RNFL) thickness in visual recovery after orbital decompression of patients with dysthyroid optic neuropathy (DON). METHODS: A total of 52 eyes of 37 patients who underwent orbital decompression for DON between 2013 and 2019 were retrospectively reviewed. We examined peripapillary RNFL thickness, best-corrected visual acuity (BCVA), visual field (VF) for mean deviation (MD) and pattern standard deviation (PSD), and pattern-reversed visual evoked potential (PVEP) for P100 latency and amplitude before and after surgery...
May 4, 2021: International Ophthalmology
J Münst, A Pudszuhn, M V Bernstorff, T Obermueller, H Erdur, H J Audebert, M Rose, A Reisshauer, I Hoffmann, U Schönfeld, V M Hofmann
Dizziness is a common leading symptom. Especially patients with chronic vertigo syndromes experience a significant impairment in quality of life up to a limitation of their ability to work in the case of employed persons. The consequences are financial and capacitive burdens on the health system due to frequently multiple examinations and sick leave up to occupational invalidity of the affected patient. In 150 patients with chronic vertigo syndromes and an unclear outpatient diagnosis, at least one diagnosis that justified the complaint was made in over 90% of cases on the basis of a structured interdisciplinary inpatient diagnostic concept...
May 4, 2021: HNO
Luca D'Onofrio, Alise Kalteniece, Maryam Ferdousi, Shazli Azmi, Ioannis N Petropoulos, Georgios Ponirakis, Uazman Alam, Omar Asghar, Andrew Marshall, Andrew J M Boulton, Nathan Efron, Raffaella Buzzetti, Handrean Soran, Rayaz A Malik
Purpose: Increased corneal and epidermal Langerhans cells (LCs) have been reported in patients with diabetic neuropathy. The aim of this study was to quantify the density of LCs in relation to corneal nerve morphology and the presence of diabetic neuropathy and to determine if this differed in patients with type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM), and latent autoimmune diabetes of adults (LADA). Methods: Patients with T1DM (n = 25), T2DM (n = 36), or LADA (n = 23) and control subjects (n = 23) underwent detailed assessment of peripheral neuropathy and corneal confocal microscopy...
May 3, 2021: Investigative Ophthalmology & Visual Science
Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti
OBJECTIVE: This work aims to expand knowledge regarding the genetic spectrum of HSPB1-related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy (dHMN). METHODS: Two patients with axonal sensorimotor neuropathy underwent detailed clinical examinations, neurophysiological studies, and next-generation sequencing with subsequent bioinformatic prioritization of genetic variants and in silico analysis of the likely causal mutation...
May 4, 2021: Annals of Clinical and Translational Neurology
Jiaxi Yu, Xing-Hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao-Rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang
BACKGROUND: The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy. This study aimed to report patients with distal weakness with both neuropathic and myopathic features on electrophysiology and pathology who present GGC repeat expansions in the NOTCH2NLC. METHODS: Whole-exome sequencing (WES) and long-read sequencing were implemented to identify the candidate genes...
May 4, 2021: Annals of Clinical and Translational Neurology
Jinya Huang, Rumei Li, Naijia Liu, Na Yi, Hangping Zheng, Qi Zhang, Lianying Zhou, Linuo Zhou, Renming Hu, Bin Lu
AIMS: Non-alcoholic fatty liver disease and type 2 diabetes mellitus are closely related and often occur simultaneously in patients. Type 2 diabetes increases the risk of diabetic peripheral neuropathy, resulting in intolerable pain and extremity amputation that reduces the quality of life. However, the role of non-alcoholic fatty liver disease in the pathogenesis of diabetic peripheral neuropathy remains unclear. Thus, we evaluated the correlation of liver fibrosis and steatosis, which are representative histological morphologies of non-alcoholic fatty liver disease, with diabetic peripheral neuropathy in type 2 diabetes patients...
May 4, 2021: Journal of Diabetes Investigation
Ombeline McGregor, Mark J Plested, Elsa Beltran
Idiopathic is the most common etiology for acute onset of facial neuropathy in dogs with limited number of studies describing MRI characteristics. A retrospective, observational study was performed using archived records, aiming to describe the MRI features of the caudal portion of the digastric muscle in dogs diagnosed with idiopathic facial neuropathy and to determine correlation with prognosis. Client-owned dogs presented to a referral hospital between 2009 and 2019, diagnosed with unilateral idiopathic facial neuropathy and having undergone MRI, with images including the caudal portion of the digastric muscle, were included (n = 19)...
May 4, 2021: Veterinary Radiology & Ultrasound
Glenn Franken, Perla Douven, Jacques Debets, Elbert A J Joosten
BACKGROUND AND OBJECTIVE: The sensory cell somata in the DRG contain all equipment necessary for extensive GABAergic signaling and are able to release GABA upon depolarization. With this study, we hypothesize that pain relief induced by conventional dorsal root ganglion stimulation (Con-DRGS) in animals with experimental painful diabetic peripheral neuropathy is related to the release of GABA from DRG neurons. With use of quantitative immunocytochemistry, we hypothesize DRGS to result in a decreased intensity of intracellular GABA-immunostaining in DRG somata...
May 4, 2021: Neuromodulation: Journal of the International Neuromodulation Society
Nandakumar Nagaraja, Sibiya Sabu
INTRODUCTION: Cerebral venous sinus thrombosis (CVST) can rarely present with cranial neuropathies other than abducent nerve palsy. The authors report a case and review the literature for nonabducent cranial neuropathies in CVST. CASE REPORT: A 22-year-old woman with a history of oral contraceptive use developed right-sided headache, blurred vision, and dizziness for 4 days. Magnetic resonance venogram showed complete thrombosis of the right transverse sinus, sigmoid sinus, and internal jugular vein, and partial thrombosis of the superior sagittal sinus, left transverse sinus, and superior part of the left internal jugular vein...
May 5, 2021: Neurologist
Yasuhito Terui, Shinya Rai, Koji Izutsu, Motoko Yamaguchi, Jun Takizawa, Junya Kuroda, Takayuki Ishikawa, Koji Kato, Youko Suehiro, Noriko Fukuhara, Ken Ohmine, Hideki Goto, Kazuhito Yamamoto, Nobuhiro Kanemura, Yasunori Ueda, Kenichi Ishizawa, Kyoya Kumagai, Atsuko Kawasaki, Tomohisa Saito, Misato Hashizume, Hirohiko Shibayama
Polatuzumab vedotin (pola) is a CD79b-targeted antibody-drug conjugate delivering a potent anti-mitotic agent (monomethyl auristatin E) to B-cells. This was an open-label, single-arm study of pola 1.8 mg/kg, bendamustine 90 mg/m2 , rituximab 375 mg/m2 (pola+BR) Q3W for up to six cycles in patients with relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) who received ≥1 prior line of therapy and were ineligible for autologous stem cell transplantation (ASCT) or experienced treatment failure with prior ASCT...
May 4, 2021: Cancer Science
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara Stamper, Silvia Maitz, Francesco Canonico, Anya Revah-Politi, Gabriel S Kupchik, Kwame Anyane-Yeboa, Vimla Aggarwal, Andreas Benneche, Eirik Bratland, Siren Berland, Felice D'Arco, Cesar Augusto Alves, Adeline Vanderver, Daniela Longo, Enrico Bertini, Annalaura Torella, Vincenzo Nigro, Alessandra D'Amico, Marjo S van der Knaap, Paola Goffrini, Nicola Brunetti-Pierri
KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate tRNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy. We report the clinical, biochemical and neuroradiological features of nine individuals with KARS1-related disorder carrying 12 different variants with nine of them being novel. The consequences of these variants on the cytosol and/or mitochondrial LysRS were functionally validated in yeast mutants...
May 3, 2021: Human Mutation
Takashi Kurashige, Mineyo Mito, Hideki Yamamoto, Tomohito Sugiura, Takashi Onoe, Kazuya Kuraoka, Kikuo Nakano, Tsuyoshi Torii
Immune-related adverse events (irAEs) commonly involve the gastrointestinal tract, endocrine glands, skin, and liver, and rarely the nervous system. The pathomechanism of irAEs in the nervous system is unclear, and so characterizing these severe toxic effects is a priority, even if irAEs are uncommon in the nervous system. Our patient presented subacute muscle weakness and dysesthesia with colitis as irAEs caused by pembrolizumab, one of the anti-programmed death-1 (PD-1) antibodies. Electromyography revealed abundant fibrillations and fasciculations of upper and lower extremities and severe reduction in motor unit potentials; however, antineutrophil cytoplasmic antibodies, rheumatoid factor, autoantibodies against Hu and Yo, and anti-ganglioside antibodies, such as GQ1b, were undetectable in the serum...
May 3, 2021: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Lewis Kass-Iliyya, Ptolemaios G Sarrigiannis, David S Sanders, Marios Hadjivassiliou
Gluten sensitivity can manifest with a spectrum of neurological dysfunction including ataxia, encephalopathy and neuropathy with or without associated coeliac disease (CD). Gluten sensitivity can also present with central nervous system (CNS) hyperexcitability and cortical myoclonus which is often accompanied with refractory CD. CNS hyperexcitability can also be associated with Glutamic Acid Decarboxylase (GAD) antibodies or much less commonly with Glycine Receptor Antibodies (GlyR-Abs) but the direct pathogenic roles of these antibodies remain debatable...
May 3, 2021: Cerebellum & Ataxias
Sun Yawei, Long Jianhai, Zhao Junxiu, Peng Xiaobo, Qiu Zewu
BACKGROUND: There are no reports on the incidence of chronic mercury poisoning in a large population in China. This study investigated the epidemiology, clinical manifestations, treatment, and follow-up of Chinese patients with chronic mercury poisoning. METHODS: Data for 288 mercury poisoning patients were collected at our hospital from July 2014 to September 2019, including sex, age, admission time, blood mercury content, urine mercury content, creatinine, urinary mercury/creatinine ratio, 24-h urinary protein levels, electromyography (EMG) findings, renal biopsy, and follow-up...
May 3, 2021: BMC Pharmacology & Toxicology
María Costales, Rodrigo Casanueva, Vanessa Suárez, José María Asensi, Guadalupe A Cifuentes, Marta Diñeiro, Juan Cadiñanos, Fernando López, César Álvarez-Marcos, Andrea Otero, Justo Gómez, José Luis Llorente, Rubén Cabanillas
OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 ( RFC1 ) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study describes clinical and genetic features of our patients with clinical suspicion of the syndrome. STUDY DESIGN: A retrospective descriptive study from an ataxia database comprising 500 patients. SETTING: The study was performed at the Otorhinolaryngology Department of a hospital in the north of Spain...
May 4, 2021: Otolaryngology—Head and Neck Surgery
Sophia Rossboth, Benedikt Rossboth, Hans Schoenherr, Christian Ciardi, Monika Lechleitner, Willi Oberaigner
BACKGROUND: Diabetic foot complications, one of the most severe late complications of type 2 diabetes mellitus, are associated with a tremendous personal and financial burden. In order to drive the prevention of diabetic foot complications forward and facilitate early detection and personalized screening of high-risk patients, longitudinal studies are needed to identify risk factors associated with diabetic foot complications in large patient datasets. METHODS: This is a retrospective cohort study on 3002 patients with type 2 diabetes mellitus aged ≥ 18 years without prior foot complications...
May 3, 2021: Wiener Klinische Wochenschrift
Natasha M Simske, Alex Benedick, Megan A Audet, Heather A Vallier
Objectives: To identify predictors of functional outcomes following treatment of ankle fracture in patients 55 years or older. Setting: Level 1 Trauma Center. Patients/participants: Four hundred twenty-nine patients with torsional ankle fractures (44A-C): 233 patients (54%) were ages 55 to 64, 25% were between the ages 65 and 74; 21% were 75 years or older. Intervention: Operative or nonoperative management of ankle fracture...
September 2020: OTA international: the open access journal of orthopaedic trauma
Alexander S Rascoe, Michael D Kavanagh, Megan A Audet, Emily Hu, Heather A Vallier
Objectives: To identify comorbidities and injury characteristics associated with surgical site infection (SSI) following internal fixation of malleolar fractures in an urban level 1 trauma setting. Design: Retrospective. Setting: Level 1 trauma center. Patients/Participants: Seven-hundred seventy-six consecutive patients with operatively managed malleolar fractures from 2006 to 2016. Intervention: Open reduction internal fixation...
June 2020: OTA international: the open access journal of orthopaedic trauma
Devin Betsch, Paul R Freund
The novel Coronavirus disease 2019 (SARS-CoV-2/COVID-19) has multiple systemic manifestations, including disease entities relevant to neuro-ophthalmologic practices, including Ischemic and hemorraghic strokes, cranial nerve palsies, Miller Fisher and Guillan-Barre syndrome, optic neuritis, and intracranial hypertension. The delivery of health care in Neuro-ophthalmology clinics has evolved to expand the role of telehealth and new management decisions regarding immunosuppresive treatment of pre-existing neuro-ophthalmologic diseases, and prone positioning causing ischemic optic neuropathy...
April 28, 2021: Advances in Ophthalmology and Optometry
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