Read by QxMD icon Read


Antonella Sferra, Fabiana Fattori, Teresa Rizza, Elsabetta Flex, Emanuele Bellacchio, Alessandro Bruselles, Stefania Petrini, Serena Cecchetti, Massimo Teson, Fabrizia Restaldi, Andrea Ciolfi, Filippo M Santorelli, Ginevra Zanni, Sabina Barresi, Claudia Castiglioni, Marco Tartaglia, Enrico Bertini
Microtubules participate in fundamental cellular processes, including chromosomal segregation and cell division, migration, and intracellular trafficking. Their proper function is required for correct central nervous system development and operative preservation, and mutations in genes coding tubulins, the constituting units of microtubules, underlie a family of neurodevelopmental and neurodegenerative diseases, collectively known as "tubulinopathies", characterized by a wide range of neuronal defects resulting from defective proliferation, migration, and function...
March 14, 2018: Human Molecular Genetics
Ryutaro Tomita, Tetsuju Sekiryu, Hiroaki Shintake, Kuniharu Saito
PURPOSE: To report a 67-year-old woman with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome, showing bilateral serous retinal detachment. The retinal lesion was evaluated by multimodal imaging using spectral domain optical coherence tomography and an adaptive optics (AO) camera. METHODS: A case report. RESULTS: Optical coherence tomography showed hyperreflective foci mainly in the inner retina in both eyes...
March 15, 2018: Retinal Cases & Brief Reports
Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Amey Dilip Sonavane, Sanjiv Saigal, Abhishek Kathuria, Narendra S Choudhary, Neeraj Saraf
Extrahepatic syndromes are uncommon manifestations of acute and chronic hepatitis B. The pathogenesis likely involves an aberrant immunologic response to extrahepatic viral proteins. Antiviral therapy reduces the availability of these viral protein antigens and thus halts immune activation. Approximately 1% of all cases of acute inflammatory demyelinating polyneuropathy are associated with hepatitis B. Guillain-Barre syndrome (GBS) is a remarkably clinically diverse disorder with distinctive variants characterised by an immune-mediated attack to components of the peripheral nervous system...
March 14, 2018: Clinical Journal of Gastroenterology
Jeffrey A Allen, Kenneth C Gorson, Deborah Gelinas
Introduction: We explored adherence to the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) guidelines for the diagnosis and treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) by reviewing data from a specialty pharmacy database. Materials and Methods: Clinical and electrophysiologic data were reviewed for 65 consecutive patients treated with intravenous immunoglobulin (IVIG) for CIDP. Three neuromuscular neurologists independently classified cases according to EFNS/PNS criteria as (1) fulfilling CIDP criteria; (2) non-CIDP (neither clinical nor electrophysiologic criteria met); or (3) unknown (insufficient information)...
March 2018: Brain and Behavior
Yasutaka Tajima, Mariko Matsumura, Hiroaki Yaguchi, Yasunori Mito
A 27-year-old woman with optic neuritis and cervical myelitis developed hypertrophic demyelinating polyneuropathy. It was hypothesized that the diagnosis was combined central and peripheral demyelination. A hypertrophic nerve was observed subcutaneously, and magnetic resonance imaging demonstrated marked hypertrophy of the nerve roots. The patient was negative for anti-aquaporin 4 antibodies. Her anti-neurofascin 155 antibody levels was slightly elevated, but it was not definitely positive. Pulsed steroid therapy and the administration of immunoglobulin ameliorated her symptoms...
2018: Internal Medicine
C Shivaprasad, Amit Goel, Alice Vilier, Jean-Henri Calvet
Context: Electrochemical skin conductance (ESC) test is a widely accepted objective technique for quantitatively assessing sudomotor dysfunction, which is one of the earliest-detected neurophysiologic abnormalities in diabetic patients with distal symmetric polyneuropathy. Aims: This study aimed to provide normative data for ESC values among healthy Indian participants and assess the potential influence of age, sex, and body mass index (BMI) on ESC measurements...
January 2018: Indian Journal of Endocrinology and Metabolism
Masaki Kobayashi, Douglas W Zochodne
Diabetic polyneuropathy (DPN) continues to be generally considered as a "microvascular" complication of diabetes mellitus alongside nephropathy and retinopathy. The microvascular hypothesis, however, may be tempered by the concept that diabetes directly targets dorsal root ganglion sensory neurons. This neuron specific concept, supported by accumulating evidence, might account for important features of DPN, such as its early sensory neuron degeneration. Diabetic sensory neurons develop neuronal atrophy alongside a series of mRNA changes related to declines in structural proteins, increases in heat shock protein (HSP), increases in the receptor for advanced glycation endproducts (RAGE), declines in growth factor signaling and other changes...
March 13, 2018: Journal of Diabetes Investigation
Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A Mosquera, Shade Moody, Aravind Yadav
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases...
2018: Case Reports in Pediatrics
Broes Martens, Michel De Pauw, Jan L De Bleecker
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue. It is most frequently the result of a mutation in the TTR gene, most commonly a p.Val50Met mutation. TTR-FAP is a rare autosomal dominant heritable disabling, heterogeneous disease in which early diagnosis is of pivotal importance when attempting treatment. This paper discusses the course of four Belgian FAP patients with different TTR mutations (p...
March 9, 2018: Acta Neurologica Belgica
Maarten van Beek, Denise Hermes, Wiel M Honig, Bengt Linderoth, Sander M J van Kuijk, Maarten van Kleef, Elbert A Joosten
OBJECTIVES: This study utilizes a model of long-term spinal cord stimulation (SCS) in experimental painful diabetic polyneuropathy (PDPN) to investigate the behavioral response during and after four weeks of SCS (12 hours/day). Second, we investigated the effect of long-term SCS on peripheral cutaneous blood perfusion in experimental PDPN. METHODS: Mechanical sensitivity was assessed in streptozotocin induced diabetic rats (n = 50) with von Frey analysis. Hypersensitive rats (n = 24) were implanted with an internal SCS battery, coupled to an SCS electrode covering spinal levels L2-L5...
March 9, 2018: Neuromodulation: Journal of the International Neuromodulation Society
Dan Ziegler, Rüdiger Landgraf, Ralf Lobmann, Karlheinz Reiners, Kristian Rett, Oliver Schnell, Alexander Strom
AIMS: We conducted a nationwide educational initiative to determine the prevalence and risk factors of diagnosed and undiagnosed painful and painless distal sensory polyneuropathy (DSPN). METHODS: Among 1,850 participants, 781 had no history of diabetes (ND), 126 had type 1 diabetes (T1D), and 943 had type 2 diabetes (T2D). Painful DSPN was defined as polyneuropathy detected by bedside tests with pain and/or burning in the feet, while painless DSPN was defined as polyneuropathy with paresthesias, numbness, or absence of symptoms...
March 5, 2018: Diabetes Research and Clinical Practice
Bo Hu, Megan Mccollum, Vignesh Ravi, Sezgi Arpag, Daniel Moiseev, Ryan Castoro, Bret C Mobley, Bryan W Burnette, Carly Siskind, John W Day, Robin Yawn, Shawna Feely, Yuebing Li, Qing Yan, Michael E Shy, Jun Li
OBJECTIVE: Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS: Over the past 9 years, we have enrolled and studied a cohort of 12 CMT4J patients, including 6 novel FIG4 mutations. We evaluated these patients and related mouse models using morphological, electrophysiological and biochemical approaches...
March 8, 2018: Annals of Neurology
Irene Pulido-Valdeolivas, David Gómez-Andrés, Juan Andrés Martín-Gonzalo, Irene Rodríguez-Andonaegui, Javier López-López, Samuel Ignacio Pascual-Pascual, Estrella Rausell
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes may help in monitoring disease progression and personalizing therapies. This is currently managed by measuring values of some kinematic and spatio-temporal parameters at certain moments during the gait cycle, either in the doctor´s surgery room or after very precise measurements produced by instrumental gait analysis (IGA)...
2018: PloS One
Stefan Wietek
AIM: To present data from three studies of a Post-Authorization Safety Surveillance (PASS) program for the subset of patients receiving octagam® 5% or 10% for chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Data on patients with CIDP treated with octagam were analyzed to assess its safety and tolerability. RESULTS: Of 2314 patients included in the studies, 58 patients (mean age: 64.6 years) received octagam for CIDP, mean dose of which was 0...
March 8, 2018: Neurodegenerative Disease Management
Stefanie Aurich, Jan-Christoph Simon, Regina Treudler
We report a 78 year-old non-atopic female with polyneuropathy who started to receive monthly intramuscular injections of thiamine hydrochloride. She had an anaphylaxis after the fourth injection. Skin prick test (SPT) with pure commercially available aqueous preparations was positive for thiamine hydrochloride. A titrated, single blinded, placebo-controlled oral provocation test with thiamine hydrochloride was well tolerated. The patient was then diagnosed as compartment allergy with hypersensitivity to parenteral but not to oral thiamine...
February 2018: Iranian Journal of Allergy, Asthma, and Immunology
Alejandra Gonzalez-Duarte
PURPOSE: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a progressive disease primarily characterized by adult-onset sensory, motor, and autonomic neuropathy. In this article, we discuss the pathophysiology and principal findings of autonomic neuropathy in hATTR amyloidosis, the most common methods of assessment and progression, and its relation as a predictive risk factor or a measure of progression in the natural history of the disease. METHODS: A literature search was performed using the terms "autonomic neuropathy," "dysautonomia," and "autonomic symptoms" in patients with hereditary transthyretin amyloidosis and familial amyloid polyneuropathy...
March 6, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
Stephen Keddie, Shirley D'Sa, David Foldes, Aisling S Carr, Mary M Reilly, Michael P T Lunn
POEMS syndrome is a rare and disabling autoinflammatory condition characterised by a typical peripheral neuropathy and the presence of a monoclonal plasma cell disorder. The acronym 'POEMS' represents the complex and multisystem features of the disease, including polyneuropathy, organomegaly, endocrinopathy, a monoclonal plasma cell disorder and skin disease. The diagnosis of POEMS is a significant challenge because of the heterogeneity of clinical presentations and variation of POEMS features. Patients are often misdiagnosed with another cause of inflammatory neuropathy and receive one or more ineffective immunomodulatory medications, resulting in delayed diagnosis and further clinical deterioration before a diagnosis is made...
March 6, 2018: Practical Neurology
Nischay Mishra, Adrian Caciula, Adam Price, Riddhi Thakkar, James Ng, Lokendra V Chauhan, Komal Jain, Xiaoyu Che, Diego A Espinosa, Magelda Montoya Cruz, Angel Balmaseda, Eric H Sullivan, Jigar J Patel, Richard G Jarman, Jennifer L Rakeman, Christina T Egan, Chantal B E M Reusken, Marion P G Koopmans, Eva Harris, Rafal Tokarz, Thomas Briese, W Ian Lipkin
Zika virus (ZIKV) is implicated in fetal stillbirth, microcephaly, intracranial calcifications, and ocular anomalies following vertical transmission from infected mothers. In adults, infection may trigger autoimmune inflammatory polyneuropathy. Transmission most commonly follows the bite of infected Aedes mosquitoes but may also occur through sexual intercourse or receipt of blood products. Definitive diagnosis through detection of viral RNA is possible in serum or plasma within 10 days of disease onset, in whole blood within 3 weeks of onset, and in semen for up to 3 months...
March 6, 2018: MBio
Farnaz Sinaei, Atena Khodabakhsh, Kamran Alimoghaddam, Shahriar Nafissi
No abstract text is available yet for this article.
March 6, 2018: Muscle & Nerve
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"