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Sensorimotor polyneuropathy

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https://www.readbyqxmd.com/read/29761297/severe-neurologic-complications-of-immune-checkpoint-inhibitors-a-single-center-review
#1
Sarah Mancone, Thomas Lycan, Tamjeed Ahmed, Umit Topaloglu, Andrew Dothard, William J Petty, Roy E Strowd
BACKGROUND: Immune checkpoint inhibitors (ICIs) are a promising class of anticancer drugs associated with immune-related adverse events (IRAEs). In registration studies of selected cancer populations, neurologic IRAEs were rare. Post-marketing experience describing their prevalence in clinical practice continues to be reported. METHODS: A retrospective cohort of patients treated at our institution with ICIs from 2005 to 2017 was identified. Patients with new neurologic ICD codes documented during or after ICI treatment were enrolled...
May 14, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#2
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29749662/high-resolution-nerve-ultrasound-and-electrophysiological-findings-in-restless-legs-syndrome
#3
K Pitarokoili, M Fels, A Kerasnoudis, L Toenges, R Gold, M-S Yoon
BACKGROUND AND PURPOSE: Restless legs syndrome (RLS) is a multifactorial network disorder of a sensorimotor system extending from dopaminergic and glutamatergic cerebral structures to the spinal neurons and peripheral nerves. The role of peripheral nerve damage in the causality and severity progression for RLS patients remains unclear. METHODS: We performed a clinical and epidemiological study on a cohort of 34 RLS patients focusing on RLS risk factors and disease severity...
May 11, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29728528/validation-of-a-simple-disease-specific-quality-of-life-measure-for-diabetic-polyneuropathy-cappri
#4
Kelly G Gwathmey, Reza Sadjadi, William B Horton, Mark R Conaway, Carolina Barnett-Tapia, Vera Bril, James W Russell, Aziz Shaibani, Michelle L Mauermann, Michael K Hehir, Noah Kolb, Jeffrey Guptill, Lisa Hobson-Webb, Karissa Gable, Shruti Raja, Nicholas Silvestri, Gil I Wolfe, A Gordon Smith, Rabia Malik, Rebecca Traub, Amruta Joshi, Matthew P Elliott, Sarah Jones, Ted M Burns
OBJECTIVE: We studied the performance of a 15-item, health-related quality-of-life polyneuropathy scale in the clinic setting in patients with diabetic distal sensorimotor polyneuropathy (DSPN). METHODS: Patients with DSPN from 11 academic sites completed a total of 231 Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) scales during their clinic visits. Conventional and modern psychometric analyses were performed on the completed forms. RESULTS: Conventional and modern analyses generally indicated excellent psychometric properties of the CAPPRI in patients with DSPN...
May 4, 2018: Neurology
https://www.readbyqxmd.com/read/29724155/nerve-growth-factor-improves-the-outcome-of-type-2-diabetes-induced-hypotestosteronemia-and-erectile-dysfunction
#5
Yixing Wu, Chuntao Yang, Fuhui Meng, Fenglian Que, Wenxia Xiao, Huying Rao, Yan Wan, Hugh S Taylor, Lingeng Lu
Hypotestosterone and erectile dysfunction (ED) occur frequently in males with type 2 diabetes. It is still clinically challenging to manage diabetes-induced ED. Here, we conducted a 2-arm randomized clinical study and in vitro cell line experiments to investigate the effects of nerve growth factor (NGF) on serum testosterone and ED in diabetic males with sensorimotor polyneuropathy and to identify its underlying mechanisms. The analyses of serum total testosterone (TT) and free testosterone (FT), and 5-item version of the International Index of Erectile Function (IIEF-5) score at baseline and after treatment show increases in TT (3...
January 1, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/29611130/understanding-the-disease-course-and-therapeutic-benefit-of-tafamidis-across-real-world-studies-of-hereditary-transthyretin-amyloidosis-with-polyneuropathy-a-proof-of-concept-for-integrative-data-analytic-approaches
#6
Daniel Serrano, Christopher B Atzinger, Marc F Botteman
INTRODUCTION: Hereditary transthyretin (TTR) amyloidosis with polyneuropathy (hATTR-PN) is a rare, autosomal dominant amyloidosis characterized primarily by progressive ascending sensorimotor neuropathy often associated with  autonomic involvement. hATTR-PN is caused by a mutation in the TTR gene leading to protein misfolding and amyloid accumulation in peripheral nerves and vital organs. The latest global prevalence estimates point to 10,000 cases worldwide, with an upper end of about 40,000...
April 2, 2018: Neurology and Therapy
https://www.readbyqxmd.com/read/29577557/myeloperoxidase-superoxide-dismutase-3-cardiometabolic-risk-factors-and-distal-sensorimotor-polyneuropathy-kora-f4-ff4-study
#7
Christian Herder, Julia M Kannenberg, Cornelia Huth, Maren Carstensen-Kirberg, Wolfgang Rathmann, Wolfgang Koenig, Alexander Strom, Gidon J Bönhof, Margit Heier, Barbara Thorand, Annette Peters, Michael Roden, Christa Meisinger, Dan Ziegler
BACKGROUND: Oxidative stress has been proposed as important pathomechanism of cardiometabolic diseases and distal sensorimotor polyneuropathy (DSPN). However, the relevance of biomarkers of oxidative stress has not been investigated in this context. Therefore, this study aimed to assess the associations of the prooxidant myeloperoxidase (MPO) and the antioxidant extracellular superoxide dismutase (SOD3) with cardiometabolic risk factors and with prevalence and incidence of DSPN. METHODS: Cross-sectional analyses comprised 1069 participants (40...
March 25, 2018: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/29571850/phenotypical-features-of-two-patients-diagnosed-with-pharc-syndrome-and-carriers-of-a-new-homozygous-mutation-in-the-abhd12-gene
#8
Marina Frasquet, Vincenzo Lupo, María José Chumillas, Juan Francisco Vázquez-Costa, Carmen Espinós, Teresa Sevilla
PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29568686/transthyretin-familial-amyloid-polyneuropathy-ttr-fap-parameters-for-early-diagnosis
#9
Fabiola Escolano-Lozano, Ana Paula Barreiros, Frank Birklein, Christian Geber
Background: Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators. Methods: Twenty-four patients with TTR-FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross-sectional design...
January 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29549285/corneal-nerve-fiber-size-adds-utility-to-the-diagnosis-and-assessment-of-therapeutic-response-in-patients-with-small-fiber-neuropathy
#10
Michael Brines, Daniel A Culver, Maryam Ferdousi, Martijn R Tannemaat, Monique van Velzen, Albert Dahan, Rayaz A Malik
Small fiber neuropathy (SFN) is a common feature of many inflammatory diseases, often presenting with pain and disability. SFN is diagnosed using symptoms, thermal threshold testing, and intra-epidermal nerve fiber quantification. Corneal confocal microscopy (CCM) is an ophthalmic imaging technique which non-invasively quantifies corneal nerve fiber (CNF) density, branch density and length, and has comparable diagnostic and superior ability to identify nerve regeneration compared to skin biopsy. CNF size (width and area) depends upon the number of fibers within each nerve, as well as pathology (e...
March 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29490348/corneal-nerve-fractal-dimension-a-novel-corneal-nerve-metric-for-the-diagnosis-of-diabetic-sensorimotor-polyneuropathy
#11
Xin Chen, Jim Graham, Ioannis N Petropoulos, Georgios Ponirakis, Omar Asghar, Uazman Alam, Andrew Marshall, Maryam Ferdousi, Shazli Azmi, Nathan Efron, Rayaz A Malik
Objective: Corneal confocal microscopy (CCM), an in vivo ophthalmic imaging modality, is a noninvasive and objective imaging biomarker for identifying small nerve fiber damage. We have evaluated the diagnostic performance of previously established CCM parameters to a novel automated measure of corneal nerve complexity called the corneal nerve fiber fractal dimension (ACNFrD). Methods: A total of 176 subjects (84 controls and 92 patients with type 1 diabetes) with and without diabetic sensorimotor polyneuropathy (DSPN) underwent CCM...
February 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29460903/-the-efficacy-of-cocarnit-in-diabetic-neuropathy
#12
S V Kotov, E V Isakova, V Yu Leidvoll, Yu A Belova, T V Volchenkova, A V Borodin, V A Shvedov
AIM: To study the efficacy of the complex therapy, including cocarnit (group B vitamins, triphosadenine and nicotinamide), of diabetic neuropathy. MATERIAL AND METHODS: Forty-one patients with diabetes mellitus type 2 and distal symmetric sensorimotor polyneuropathy were examined. Patients were divided into 2 groups. Patients of the main group (n=26) received complex therapy, including cocarnit, and patients of the comparison group (n=15) received standard treatment...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29430866/difference-in-normal-limit-values-of-nerve-conduction-parameters-between-westerners-and-japanese-people-might-need-to-be-considered-when-diagnosing-diabetic-polyneuropathy-using-a-point-of-care-sural-nerve-conduction-device-nc-stat%C3%A2-dpncheck%C3%A2
#13
Kazuhiro Hirayasu, Hideyuki Sasaki, Shohei Kishimoto, Seigo Kurisu, Koji Noda, Kenichi Ogawa, Hiroto Tanaka, Yumiko Sakakibara, Shohei Matsuno, Hiroto Furuta, Mikio Arita, Keigo Naka, Kishio Nanjo
AIM/INTRODUCTION: Studies on a novel point-of-care device for nerve conduction study called DPNCheck have been limited to Westerners. We aimed to clarify Japanese normal limits of nerve action potential amplitude (Amp) and conduction velocity by DPNCheck (investigation I), and the validity of DPNCheck to identify diabetic symmetric sensorimotor polyneuropathy (DSPN; investigation II). MATERIALS AND METHODS: For investigation I, 463 non-neuropathic Japanese participants underwent DPNCheck examinations...
February 11, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29403542/advances-in-the-diagnosis-immunopathogenesis-and-therapies-of-igm-anti-mag-antibody-mediated-neuropathies
#14
REVIEW
Marinos C Dalakas
Polyneuropathy with immunoglobulin M (IgM) monoclonal gammopathy is the most common paraproteinemic neuropathy, comprising a clinicopathologically and immunologically distinct entity. The clinical spectrum spans from distal paresthesias and mild gait imbalance to more severe sensory ataxia, with falls and a varying degree of distal sensorimotor deficits. In approximately 75% of patients, the monoclonal IgM immunoreacts with myelin-associated glycoprotein (MAG) and sulfoglucuronyl glycosphingolipid (SGPG), or other peripheral nerve glycolipids that serve as antigens...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29383511/is-regenerative-medicine-ready-for-prime-time-in-diabetic-polyneuropathy
#15
REVIEW
Tatsuhito Himeno, Hideki Kamiya, Jiro Nakamura
PURPOSE OF REVIEW: After a prolonged warm-up period of basic research, several modalities of cell replacement therapies are under development for diseases with no available cure. Diabetic polyneuropathy (DPN) is one of the most prevalent chronic diabetes complications that causes sensorimotor dysfunction, subsequent high risks for lower limb amputations, and high mortality. Currently, no disease modifying therapy exists for DPN. RECENT FINDINGS: Several types of well-documented stem/progenitor cells have been utilized for cell transplantation therapies in DPN model rodents: mesenchymal stromal cells (MSCs), endothelial progenitor cells (EPCs), and cells with similar characteristics of MSCs or EPCs derived from embryonic stem cells or induced pluripotent stem cells...
January 30, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29361379/a-novel-homozygous-mfn2-mutation-associated-with-severe-and-atypical-cmt2-phenotype
#16
Giulia Iapadre, Giovanni Morana, Maria Stella Vari, Francesca Pinto, Paola Lanteri, Alessandra Tessa, Filippo Maria Santorelli, Pasquale Striano, Alberto Verrotti
BACKGROUND: Charcot-Marie-Tooth (CMT) neuropathies represent the most common forms of inherited polyneuropathies. CMT2A, the axonal form, accounts for about one third of all CMT cases. Variants in the MFN2 gene have been recognized to be a major cause of CMT2A. To date, more than 100 pathogenetic mutations in MFN2 have been identified, leading to different neurological clinical spectrum, varying from hereditary neuropathies to more severe clinical phenotypes. Pathogenic variants in MFN2 mainly act in a dominant manner, although in a few sporadic or familial cases, homozygous or compound heterozygous mutations have been reported...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29314079/high-frequency-of-mgus-in-dsp
#17
Alon Abraham, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, Bruce A Perkins, Vera Bril
INTRODUCTION: Monoclonal gammopathy has been reported in several polyneuropathies. In this study, we sought to explore the frequency and characteristics of monoclonal gammopathy in patients with diabetic sensorimotor polyneuropathy (DSP). METHODS: Patients with type 1 and type 2 diabetes mellitus (DM 1, DM 2) and controls without diabetes were evaluated between November 2008 and December 2013. RESULTS: Fifty controls, 66 patients with DM 1, and 106 patients with DM 2 were included, with average ages of 43 ± 18, 45 ± 17, and 65 ± 10 years, respectively; the frequency of monoclonal gammopathy was 0%, 8%, and 15%, respectively...
January 4, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29279594/poems-syndrome
#18
W W T Nyunt, R Remli, F A Abdul Muttlib, C F Leong, N Masir, N R Tumian, S F S Abdul Wahid
POEMS syndrome is the syndrome of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and typical Skin changes. A 65-year-old lady presented with the 2-day-history of inability to walk, 4-month-history of progressive worsening of muscle weakness of both lower limbs and 1-year-history of progressive worsening of bilateral numbness of lower limbs. Nerve conduction study revealed generalized sensorimotor demyelinating polyneuropathy. She was initially treated as chronic inflammatory demyelinating polyradiculoneuropathy with intravenous immunoglobulin (IVIG) and high-dose prednisolone...
December 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/29278894/asymmetric-ataxia-depression-memory-loss-epilepsy-and-axonal-neuropathy-associated-with-a-heterozygous-dna-polymerase-gamma-variant-of-uncertain-significance-c1370g-a-r457q
#19
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Mutations in the gene encoding DNA polymerase gamma (POLG) impair its ability to proofread mitochondrial DNA (mtDNA) during replication [1]. This results in a high frequency of randomly distributed mtDNA mutations and thus a wide range of phenotypes, including seizures, neuropathy, and cerebellar ataxia [1, 2]. We document a phenotype associated with the rare POLG variant c.1370G>A (p.R457Q). METHODS: Over 10 years, we performed electrodiagnostic and neuropsychologic on a patient who presented with a variety of neurologic symptoms...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29194856/toronto-clinical-neuropathy-score-is-valid-for-a-wide-spectrum-of-polyneuropathies
#20
A Abraham, C Barnett, H D Katzberg, L E Lovblom, B A Perkins, V Bril
BACKGROUND AND PURPOSE: The Toronto Clinical Neuropathy Score (TCNS) is a valid and reliable scale for the diagnosis and staging of diabetic sensorimotor polyneuropathy. In this study, we aimed to explore the performance of the TCNS in non-diabetic polyneuropathies. METHODS: We performed a prospective study from November 2016 to May 2017 of patients with non-diabetic polyneuropathy. Patients had clinical, electrophysiological and functional assessments of their polyneuropathy, and the findings were correlated with the TCNS...
March 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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