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Sensorimotor polyneuropathy

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https://www.readbyqxmd.com/read/28412068/vitreous-amyloidosis-ocular-systemic-and-genetic-insights
#1
Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohra
PURPOSE: To report the unique clinical and surgical characteristics encountered in eyes with vitreous amyloidosis. Systemic evaluation and visual outcome after vitrectomy are discussed. A novel mutation in the transthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described. DESIGN: Retrospective, observational study. PARTICIPANTS: Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28397393/early-discrimination-of-sensorimotor-guillain-barr%C3%A3-syndrome-into-demyelinating-or-axonal-subtype-by-automated-nerve-excitability-testing
#2
So Young Pyun, Mi-Ri Kang, Joo Young Lee, Kim Jong Kuk, Seong-Il Oh, Jong Seok Bae
In the early stage of disease, differentiating acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor sensory axonal neuropathy (AMSAN) using only a conventional nerve conduction studies (NCS) may be difficult. We evaluated the differences in the motor axonal excitability properties of 16 cases of sensorimotor Guillain-Barré syndrome by nerve excitability testing (NET). The antiganglioside antibody assay and follow-up NCS resulted in 12 patients diagnosed as AIDP and 4 patients as AMSAN. Clinical and excitability parameters in each group were compared with those in 30 normal controls...
April 11, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28376083/bovine-and-murine-models-highlight-novel-roles-for-slc25a46-in-mitochondrial-dynamics-and-metabolism-with-implications-for-human-and-animal-health
#3
Amandine Duchesne, Anne Vaiman, Johan Castille, Christian Beauvallet, Pauline Gaignard, Sandrine Floriot, Sabrina Rodriguez, Marthe Vilotte, Laurent Boulanger, Bruno Passet, Olivier Albaric, François Guillaume, Abdelhak Boukadiri, Laurence Richard, Maud Bertaud, Edouard Timsit, Raphaël Guatteo, Florence Jaffrézic, Pierre Calvel, Louise Helary, Rachid Mahla, Diane Esquerré, Christine Péchoux, Sophie Liuu, Jean-Michel Vallat, Didier Boichard, Abdelhamid Slama, Jean-Luc Vilotte
Neuropathies are neurodegenerative diseases affecting humans and other mammals. Many genetic causes have been identified so far, including mutations of genes encoding proteins involved in mitochondrial dynamics. Recently, the "Turning calves syndrome", a novel sensorimotor polyneuropathy was described in the French Rouge-des-Prés cattle breed. In the present study, we determined that this hereditary disease resulted from a single nucleotide substitution in SLC25A46, a gene encoding a protein of the mitochondrial carrier family...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28264806/multidisciplinary-approach-to-the-management-of-a-case-of-classical-respiratory-diphtheria-requiring-percutaneous-endoscopic-gastrostomy-feeding
#4
Matthew James Haywood, Ananth Vijendren, Vikas Acharya, Rohinton Mulla, Miss Jaan Panesar
We present a case of a Caucasian woman aged 67 years referred with a 4-day history of sore throat, dysphagia, fever and nasal blockage. Examination revealed a swollen neck and pharyngeal pseudomembrane. A throat swab was positive on culture for Corynebacterium ulcerans, with toxin expression confirmed on PCR and Elek testing. A diagnosis of classical respiratory diphtheria was made, with subsequent confirmation of the patient's domesticated dog as the source of infection. The dog had recently been attacked by a wild badger and was being treated for an ear infection...
March 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28243447/using-in-vivo-corneal-confocal-microscopy-to-identify-diabetic-sensorimotor-polyneuropathy-risk-profiles-in-patients-with-type-1-diabetes
#5
Evan J H Lewis, Bruce A Perkins, Lief E Lovblom, Richard P Bazinet, Thomas M S Wolever, Vera Bril
OBJECTIVE: Diabetic sensorimotor peripheral neuropathy (DSP) is the most prevalent complication in diabetes mellitus. Identifying DSP risk is essential for intervening early in the natural history of the disease. Small nerve fibers are affected earliest in the disease progression and evidence of this damage can be identified using in vivo corneal confocal microscopy (IVCCM). RESEARCH DESIGN AND METHODS: We applied IVCCM to a cohort of 40 patients with type 1 diabetes to identify their DSP risk profile...
2017: BMJ Open Diabetes Research & Care
https://www.readbyqxmd.com/read/28215248/quantitative-sensory-test-for-primary-restless-legs-syndrome-willis-ekbom-disease-using-the-current-perception%C3%A2-threshold-test
#6
Yong Won Cho, Min-Sung Kang, Keun Tae Kim, So Young Do, Jung-Geun Lim, So Young Lee, Gholam K Motamedi
BACKGROUND: Restless legs syndrome/Willis-Ekbom disease (RLS/WED) is a sensorimotor neurological disorder, and it is especially aggravated at night. The purpose of this study was to investigate the diurnal sensory dysfunction in primary RLS/WED using the current perception threshold (CPT) test, compared to healthy controls. METHODS: Thirty primary RLS/WED subjects and 30 healthy controls were enrolled. The severity of RLS/WED and sleep problems were evaluated in all subjects...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28202949/clinical-diversity-caused-by-novel-ighmbp2-variants
#7
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#8
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28174259/proinflammatory-cytokines-predict-the-incidence-and-progression-of-distal-sensorimotor-polyneuropathy-kora-f4-ff4-study
#9
Christian Herder, Julia M Kannenberg, Cornelia Huth, Maren Carstensen-Kirberg, Wolfgang Rathmann, Wolfgang Koenig, Margit Heier, Sonja Püttgen, Barbara Thorand, Annette Peters, Michael Roden, Christa Meisinger, Dan Ziegler
OBJECTIVE: Experimental and epidemiological studies have implicated inflammatory processes in the pathogenesis of distal sensorimotor polyneuropathy (DSPN), but prospective studies are lacking. We hypothesized that biomarkers of inflammation predict the development and progression of DSPN in a population-based cohort. RESEARCH DESIGN AND METHODS: This study was based on participants aged 62-81 years from the Cooperative Health Research in the Region of Augsburg (KORA) F4/FF4 cohort, with a mean follow-up of 6...
February 7, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28105520/type-1-diabetic-patients-with-peripheral-neuropathy-have-pan-enteric-prolongation-of-gastrointestinal-transit-times-and-an-altered-caecal-ph-profile
#10
Adam D Farmer, Anne Grave Pedersen, Birgitte Brock, Poul Erik Jakobsen, Jesper Karmisholt, Sahar D Mohammed, S Mark Scott, Asbjørn Mohr Drewes, Christina Brock
AIMS/HYPOTHESIS: We hypothesised that type 1 diabetic patients with established diabetic sensorimotor polyneuropathy (DSPN) would have segmental and/or pan-enteric dysmotility in comparison to healthy age-matched controls. We aimed to investigate the co-relationships between gastrointestinal function, degree of DSPN and clinical symptoms. METHODS: An observational comparison was made between 48 patients with DSPN (39 men, mean age 50 years, range 29-71 years), representing the baseline data of an ongoing clinical trial (representing a secondary analysis of baseline data collected from an ongoing double-blind randomised controlled trial investigating the neuroprotective effects of liraglutide) and 41 healthy participants (16 men, mean age 49 years, range 30-78) who underwent a standardised wireless motility capsule test to assess gastrointestinal transit...
January 20, 2017: Diabetologia
https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#11
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
January 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#12
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
OBJECTIVE: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN...
March 2017: Neuropsychology
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#13
Yohei Harada, Araya Puwanant, David N Herrmann
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#14
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p...
March 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27854094/cubital-tunnel-syndrome-caused-by-ulnar-nerve-schwannoma-in-a-patient-with-diabetic-sensorimotor-polyneuropathy
#15
Meng-Ta Liu, Jiunn-Tay Lee, Chih-Hsin Wang, Yu-Chieh Lin, Chung-Hsing Chou
PURPOSE: An uncommon ulnar nerve schwannoma should not be neglected in a diabetic patient with cubital tunnel syndrome, the second most common cause of entrapment neuropathy. CASE REPORT: A 61-year-old woman with a past history of type 2 diabetes mellitus complicated with sensorimotor polyneuropathy presented with progressive numbness and weakness of the left ring and little fingers for one year. A provisional diagnosis of cubital tunnel syndrome was made according to physical examination and electrophysiological studies...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27848118/minor-salivary-gland-biopsy-for-the-diagnosis-of-familial-amyloid-polyneuropathy
#16
Fernanda de Paula Eduardo, Letícia de Mello Bezinelli, Danielle Lima Corrêa de Carvalho, Bianca Della-Guardia, Marcio Dias de Almeida, Lidiane Vieira Marins, Luciana Corrêa
The diagnosis of Val30Met familial amyloidotic polyneuropathy (FAP) is based on genetic tests, clinical manifestations, familial history and biopsy of peripheral tissues (e.g. rectum, abdominal fat pad, sural nerve, and minor salivary gland) to confirm the presence of amyloid deposits. The aim of this study was to determine the frequency of amyloid deposits in minor salivary glands biopsied from FAP patients and to investigate whether an association exists between the presence of these deposits and clinical features...
February 2017: Neurological Sciences
https://www.readbyqxmd.com/read/27821089/posterior-reversible-encephalopathy-as-the-first-manifestation-of-bickerstaff-s-brainstem-encephalitis
#17
Pei-Ru Chen, Shih-Pin Chen
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) has been associated with Guillain-Barre syndrome in rare cases. Here we report a patient in whom PRES was the presenting manifestation of Bickerstaff's brainstem encephalitis. CASE PRESENTATION: A 75-year-old woman presented with acute onset of hypertension, headache, blurred vision, and left eyelid drooping. Magnetic resonance imaging of the brain showed characteristic PRES lesions involving the parietal and occipital lobes bilaterally...
November 8, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27813425/emerging-drugs-for-diabetic-peripheral-neuropathy-and-neuropathic-pain
#18
Nikolaos Papanas, Dan Ziegler
Diabetic sensorimotor polyneuropathy (DSPN) is a common complication of diabetes. Areas covered: In this review, the authors discuss the emerging drugs for DSPN, which aim either at improving alleviation of neuropathic pain or addressing the putative mechanisms underlying diabetic neuropathy. Expert Opinion: Current treatment does not address the sensory deficits and pathogenesis underlying DSPN, so there is an unmet need for treatment options targeting the natural history of the condition. Some of these pathogenetic therapies have demonstrated clinically relevant improvements in neuropathic endpoints in recent randomised controlled trials...
December 2016: Expert Opinion on Emerging Drugs
https://www.readbyqxmd.com/read/27776522/inositol-1-4-5-trisphosphate-receptor-type-1-autoantibodies-in-paraneoplastic-and-non-paraneoplastic-peripheral-neuropathy
#19
Sven Jarius, Marius Ringelstein, Jürgen Haas, Irina I Serysheva, Lars Komorowski, Kai Fechner, Klaus-Peter Wandinger, Philipp Albrecht, Harald Hefter, Andreas Moser, Eva Neuen-Jacob, Hans-Peter Hartung, Brigitte Wildemann, Orhan Aktas
BACKGROUND: Recently, we described a novel autoantibody, anti-Sj/ITPR1-IgG, that targets the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in patients with cerebellar ataxia. However, ITPR1 is expressed not only by Purkinje cells but also in the anterior horn of the spinal cord, in the substantia gelatinosa and in the motor, sensory (including the dorsal root ganglia) and autonomic peripheral nervous system, suggesting that the clinical spectrum associated with autoimmunity to ITPR1 may be broader than initially thought...
October 24, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27676758/assessment-of-the-rocker-sole-shoes-on-postural-stability-in-patients-with-type-2-diabetes-and-distal-sensorimotor-polyneuropathy
#20
Marie Lumeau, Mathieu Lempereur, Emmanuel Sonnet, Olivier Remy Neris
OBJECTIVE: Distal sensorimotor polyneuropathy (DPN) is a leading risk factor of developing ulcer, including increased pressures at the forefoot. The rocker sole shoes are prescribed to decrease pressures but could induce instability [1]. The aim of this study was to compare the postural stability between normal shoes (NS) and rocker sole shoes (RSS) in patients with type 2 diabetes and DPN. MATERIAL/PATIENTS AND METHODS: In this preliminary, randomized, controlled study, NS and RSS were compared during static standing and gait...
September 2016: Annals of Physical and Rehabilitation Medicine
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