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https://www.readbyqxmd.com/read/28820724/neurologic-complications-in-persons-with-hiv-infection-in-the-era-of-antiretroviral-therapy
#1
Dennis Kolson
Neurologic complications in persons with HIV infection are less severe in the era of potent antiretroviral therapy but remain highly prevalent. Prior to the use of antiretroviral therapy, opportunistic infections of the central nervous system (CNS) and CNS malignancy were common. Progressive multifocal leukoencephalopathy (PML), however, remains a diagnostic challenge in HIV-infected individuals, and no effective antiviral treatment for PML is currently available. Primary neurologic complications of acute HIV infection include aseptic meningitis and acute inflammatory demyelinating polyneuropathy...
July 2017: Topics in Antiviral Medicine
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#2
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#3
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
August 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28811143/nadph-oxidases-as-drug-targets-and-biomarkers-in-neurodegenerative-diseases-what-is-the-evidence
#4
REVIEW
Silvia Sorce, Roland Stocker, Tamara Seredenina, Rikard Holmdahl, Adriano Aguzzi, Adriano Chio, Antoine Depaulis, Freddy Heitz, Peter Olofsson, Tomas Olsson, Venceslas Duveau, Despina Sanoudou, Sara Skosgater, Antonia Vlahou, Dominique Wasquel, Karl-Heinz Krause, Vincent Jaquet
Neurodegenerative disease are frequently characterized by microglia activation and/or leukocyte infiltration in the parenchyma of the central nervous system and at the molecular level by increased oxidative modifications of proteins, lipids and nucleic acids. NADPH oxidases (NOX) emerged as a novel promising class of pharmacological targets for the treatment of neurodegeneration due to their role in oxidant generation and presumably in regulating microglia activation. The unique function of NOX is the generation of superoxide anion (O2(•-)) and hydrogen peroxide (H2O2)...
August 12, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#5
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28806453/neurologic-complications-associated-with-the-zika-virus-in-brazilian-adults
#6
Ivan Rocha Ferreira da Silva, Jennifer A Frontera, Ana Maria Bispo de Filippis, Osvaldo Jose Moreira do Nascimento
Importance: There are no prospective cohort studies assessing the incidence and spectrum of neurologic manifestations secondary to Zika virus (ZIKV) infection in adults. Objective: To evaluate the rates of acute ZIKV infection among patients hospitalized with Guillain-Barré syndrome (GBS), meningoencephalitis, or transverse myelitis. Design, Setting, and Participants: A prospective, observational cohort study was conducted at a tertiary referral center for neurological diseases in Rio de Janeiro, Brazil, between December 5, 2015, and May 10, 2016, among consecutive hospitalized adults (>18 years of age) with new-onset acute parainfectious or neuroinflammatory disease...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28805783/-effect-of-the-cytoflavin-on-the-distal-polyneuropathy-severity-in-patients-with-diabetic-foot-syndrome-with-arteries-mediacalcinosis
#7
V D Skripko, A L Kovalenko, V A Zaplutanov
The aim of the study was to evaluate the effectiveness of cytoflavin in the complex treatment of patients with diabetic foot syndrome. MATERIAL AND METHODS: The research is based on the results of a comprehensive survey of 140 people with diabetic foot syndrome. Depending on the treatment, all patients were divided into 2 groups. The first group (n=35) received basic therapy. The second group (n=35) in addition to basic therapy received cytoflavin 10 ml (+200 ml 0.9% NaCl) for 10 days, followed by switching to the tablet form of the drug 2 tablets twice a day for 1 month...
2017: Khirurgiia
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#8
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28798722/autonomic-neuropathy-and-albuminocytologic-dissociation-in-cerebrospinal-fluid-as-the-presenting-features-of-primary-amyloidosis-a-case-report
#9
Jingjing Li, Yi Li, Hongbing Chen, Shihui Xing, Huiyu Feng, Dawei Liu, Dilong Wang, Jinsheng Zeng, Yuhua Fan
OBJECTIVE: Primary amyloidosis is a disease with a poor prognosis and multi-organ involvement. Here, we report the clinical and pathological features of a patient with primary amyloidosis featuring autonomic neuropathy as the initial symptom and albuminocytologic dissociation in the cerebrospinal fluid (CSF). METHODS: The patient was a 60-year-old Chinese male with numbness, orthostatic hypotension, and gastrointestinal symptoms. For diagnosis, we performed an electromyogram (EMG), lumbar puncture, Bence Jones protein urine test, serum electrophoresis blood test, sural nerve and rectal membrane biopsies, transthyretin (TTR) gene sequencing, and bone marrow puncture...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28796344/diagnostic-value-of-the-near-nerve-needle-sensory-nerve-conduction-in-sensory-inflammatory-demyelinating-polyneuropathy
#10
Zeki Odabasi, Shin J Oh
INTRODUCTION: We report here the diagnostic value of the near-nerve needle sensory nerve conduction study (NNN-SNCS) in sensory inflammatory demyelinating polyneuropathy (IDP) in which the routine nerve conduction study was normal or nondiagnostic. METHODS: The NNN-SNCS was performed to identify demyelination in the plantar nerves in 14 patients and in the median or ulnar nerve in two patients with sensory IDP . RESULTS: In 16 patients with sensory IDP, routine NCSs were either normal or non-diagnostic for demyelination...
August 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28796305/electron-microscopic-abnormality-and-therapeutic-efficacy-in-chronic-inflammatory-demyelinating-polyneuropathy-with-anti-neurofascin155-igg4-antibody
#11
Motoi Kuwahara, Hidekazu Suzuki, Nobuyuki Oka, Hidenori Ogata, Satoshi Yanagimoto, Shuji Sadakane, Yuta Fukumoto, Masaki Yamana, Yoshiko Yuhara, Keisuke Yoshikawa, Miyuki Morikawa, Shigeru Kawai, Masahiro Okazaki, Toru Tsujimoto, Jun-Ichi Kira, Susumu Kusunoki
INTRODUCTION: Neurofascin155 (NF155) is a target antigen for autoantibodies in a subset of chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: We report the cases of 4 patients with anti-NF155 IgG4 antibody-positive CIDP who underwent sural nerve biopsies. RESULTS: All patients were relatively young at onset. Three experienced tremors and 2 had severe ataxia. Although the response to intravenous immunoglobulin (IVIg) was poor in all patients, plasma exchange (PE) and corticosteroids were at least partially effective...
August 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28795614/shifting-borders-crossing-boundaries-the-case-of-combined-central-and-peripheral-demyelination
#12
Orhan Aktas
The case report by Puthenparampil et al. suggests that heterogeneity of demyelinating diseases may be more complex than expected. The authors describe a female patient starting with isolated but relapsing myelitis (in the absence of oligoclonal bands or anti-aquaporin 4 antibodies) and later experiencing the simultaneous occurrence of inflammatory demyelinating polyneuropathy and of a tumefactive hippocampal brain lesion responsive to immunotherapy. As testing for antibodies against established and novel auto-antigens including neurofascin-155 was negative, this case may be regarded as an example for the unfolding spectrum of combined central and peripheral demyelination (CCPD) syndromes with so far unknown immunological target(s)...
August 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28795610/acute-simultaneous-development-of-brain-tumour-like-lesion-and-demyelinating-polyneuropathy-in-a-patient-with-chronic-relapsing-myelitis
#13
Marco Puthenparampil, Alberto Terrin, Lisa Federle, Matteo Gizzi, Paola Perini, Paolo Gallo
Combined central and peripheral demyelination (CCPD) is a rare chronic inflammatory disorder of the nervous system. We describe the case of a patient with a history of recurrent myelitis that acutely and simultaneously developed a brain tumour-like lesion and a sensitive-motor demyelinating polyneuropathy. The diagnosis of CCPD was supported by a detailed diagnostic workup. Up to date, no similar cases have been reported in the literature.
August 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28795553/-chronic-demyelinating-polyradiculoneuropathy-revealing-a-solitary-plasmacytoma-of-the-right-iliac-bone
#14
J Oumerzouk, A Bourazza
Solitary bone plasmacytoma (pso) is a rare tumor, made of malignant plasma cells observed in a single bone, and without systemic proliferation. We report the case of a 33 year-old man who was admitted with chronic demyelinating sensorimotor polyneuropathy. Immunoelectrophoresis with immunofixation of serum proteins showed a monoclonal peak igg with lambda light chain and the workup was in favour of right hipbone secreting solitary plasmacytoma. The patient was treated with radiotherapy and steroids, and the evolution has been marked by a partial recovery of the motor deficit...
July 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28775105/poems-syndrome-in-a-patient-with-rheumatoid-arthritis
#15
Takahiko Akagi, Tomoyuki Mukai, Shoko Kodama, Yoshitaka Morita
Multiple myeloma has been reported to be associated with rheumatoid arthritis (RA). POEMS syndrome is a rare variant of multiple myeloma and is characterised by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. We report the case of a 67-year-old patient with RA who developed numbness and tingling in both legs due to polyneuropathy. CT showed a massive right pleural effusion and a sclerotic lesion in the right ninth rib. Histopathological examination of the rib revealed IgA lambda-type plasmacytoma...
August 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28771897/clinical-and-mutational-spectrum-of-charcot-marie-tooth-disease-type-2z-caused-by-morc2-variants-in-japan
#16
M Ando, Y Okamoto, A Yoshimura, J-H Yuan, Y Hiramatsu, Y Higuchi, A Hashiguchi, J Mitsui, H Ishiura, S Fukumura, M Matsushima, N Ochi, J Tsugawa, S Morishita, S Tsuji, H Takashima
BACKGROUND AND PURPOSE: The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. We aimed to describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan. METHODS: We analyzed samples from 781 unrelated patients clinically diagnosed with CMT using deoxyribonucleic acid microarray or targeted resequencing by next-generation sequencing, and samples from 434 mutation-negative patients were subjected to whole-exome sequencing...
August 3, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28768847/cross-sectional-analysis-of-a-large-cohort-with-x-linked-charcot-marie-tooth-disease-cmtx1
#17
Francis B Panosyan, Matilde Laura, Alexander M Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W Yum, Richard A Lewis, John Day, Rita Horvath, David N Herrmann, Michael E Shy, Davide Pareyson, Mary M Reilly, Steven S Scherer
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers. RESULTS: We evaluated 87 males who had a mean age of 41 years (range 10-78 years) and 73 females who had a mean age of 46 years (range 15-84 years)...
August 2, 2017: Neurology
https://www.readbyqxmd.com/read/28768822/intravenous-immunoglobulin-for-maintenance-treatment-of-chronic-inflammatory-demyelinating-polyneuropathy-a-multicentre-open-label-52-week-phase-iii-trial
#18
Satoshi Kuwabara, Masahiro Mori, Sonoko Misawa, Miki Suzuki, Kazutoshi Nishiyama, Tatsuro Mutoh, Shizuki Doi, Norito Kokubun, Mikiko Kamijo, Hiroo Yoshikawa, Koji Abe, Yoshihiko Nishida, Kazumasa Okada, Kenji Sekiguchi, Ko Sakamoto, Susumu Kusunoki, Gen Sobue, Ryuji Kaji
OBJECTIVE: Short-term efficacy of induction therapy with intravenous immunoglobulin (Ig) in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) is well established. However, data of previous studies on maintenance therapy were limited up to 24-week treatment period. We aimed to investigate the efficacy and safety of longer-term intravenous Ig therapy for 52 weeks. METHODS: This study was an open-label phase 3 clinical trial conducted in 49 Japanese tertiary centres...
August 2, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28764223/frequency-of-polyneuropathy-in-patients-on-long-term-peritoneal-dialysis-treatment
#19
Taner Basturk, Yener Koc, Aarzu Ozdemir Kayalar, Figen Yilmaz, Nuri Baris Hasbal, Tamer Sakaci, Elbis Ahbap, Abdulkadir Unsal
INTRODUCTION: Uremic polyneuropathy is very common among patients with Chronic Kidney Disease (CKD). The patients have electrophysiologic signs of impaired nerve function, although a lower percentage of patients are symptomatic. Electrophysiological parameters are quantitative indices of Polyneuropathy (PNP) severity. AIM: To assess the frequency of PNP in patients on long term Peritoneal Dialysis (PD) treatment. MATERIALS AND METHODS: Twenty three PD patients were analysed, who were receiving dialysis for at least five years and the study population divided into two groups according to duration of PD treatment...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28763304/chronic-inflammatory-demyelinating-polyneuropathy
#20
Richard A Lewis
PURPOSE OF REVIEW: As a syndrome with typical and atypical cases, chronic inflammatory demyelinating polyneuropathy (CIDP) has been a difficult disorder to diagnose and treat. The pathophysiologic basis for CIDP has not been established, contributing to the challenges in dealing with these patients. However, as one of only a handful of treatable peripheral neuropathies, there has been a tendency to diagnose CIDP to attempt a therapeutic intervention. We are also aware that there has also been overtreatment of some patients...
July 29, 2017: Current Opinion in Neurology
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